Id |
Subject |
Object |
Predicate |
Lexical cue |
T6599 |
0-10 |
NN |
denotes |
Literature |
T6600 |
11-19 |
NNS |
denotes |
searches |
T6601 |
20-28 |
VBD |
denotes |
revealed |
T6602 |
29-33 |
IN |
denotes |
that |
T6604 |
34-39 |
IN |
denotes |
among |
T6605 |
40-47 |
NN |
denotes |
disease |
T6606 |
48-53 |
NNS |
denotes |
lines |
T6607 |
54-60 |
VBN |
denotes |
mapped |
T6608 |
61-63 |
IN |
denotes |
to |
T6609 |
64-68 |
NN |
denotes |
6qE1 |
T6610 |
68-70 |
, |
denotes |
, |
T6611 |
70-73 |
DT |
denotes |
the |
T6613 |
74-85 |
JJ |
denotes |
spontaneous |
T6612 |
86-92 |
NN |
denotes |
mutant |
T6614 |
93-96 |
NN |
denotes |
opt |
T6615 |
97-102 |
NN |
denotes |
mouse |
T6603 |
103-111 |
VBZ |
denotes |
displays |
T6616 |
112-113 |
DT |
denotes |
a |
T6618 |
114-124 |
RB |
denotes |
strikingly |
T6619 |
125-132 |
JJ |
denotes |
similar |
T6617 |
133-145 |
NN |
denotes |
presentation |
T6620 |
146-148 |
IN |
denotes |
to |
T6621 |
149-153 |
DT |
denotes |
that |
T6622 |
154-163 |
VBN |
denotes |
described |
T6623 |
164-168 |
RB |
denotes |
here |
T6624 |
169-170 |
-LRB- |
denotes |
[ |
T6625 |
170-171 |
CD |
denotes |
1 |
T6626 |
171-172 |
-RRB- |
denotes |
] |
T6627 |
172-173 |
. |
denotes |
. |
T6628 |
173-374 |
sentence |
denotes |
The underlying genetic lesion causing the opt phenotype is a homozygous in-frame deletion of exons 43 and 44 of the gene Itpr1 (Itpr1opt /opt), encoding inositol 1,4,5-triphosphate receptor 1 (Itpr1). |
T6629 |
174-177 |
DT |
denotes |
The |
T6631 |
178-188 |
VBG |
denotes |
underlying |
T6632 |
189-196 |
JJ |
denotes |
genetic |
T6630 |
197-203 |
NN |
denotes |
lesion |
T6634 |
204-211 |
VBG |
denotes |
causing |
T6635 |
212-215 |
DT |
denotes |
the |
T6637 |
216-219 |
NN |
denotes |
opt |
T6636 |
220-229 |
NN |
denotes |
phenotype |
T6633 |
230-232 |
VBZ |
denotes |
is |
T6638 |
233-234 |
DT |
denotes |
a |
T6640 |
235-245 |
JJ |
denotes |
homozygous |
T6641 |
246-248 |
IN |
denotes |
in |
T6643 |
248-249 |
HYPH |
denotes |
- |
T6642 |
249-254 |
NN |
denotes |
frame |
T6639 |
255-263 |
NN |
denotes |
deletion |
T6644 |
264-266 |
IN |
denotes |
of |
T6645 |
267-272 |
NNS |
denotes |
exons |
T6646 |
273-275 |
CD |
denotes |
43 |
T6647 |
276-279 |
CC |
denotes |
and |
T6648 |
280-282 |
CD |
denotes |
44 |
T6649 |
283-285 |
IN |
denotes |
of |
T6650 |
286-289 |
DT |
denotes |
the |
T6652 |
290-294 |
NN |
denotes |
gene |
T6651 |
295-300 |
NN |
denotes |
Itpr1 |
T6653 |
301-302 |
-LRB- |
denotes |
( |
T6655 |
302-310 |
NN |
denotes |
Itpr1opt |
T6656 |
311-312 |
HYPH |
denotes |
/ |
T6654 |
312-315 |
NN |
denotes |
opt |
T6657 |
315-316 |
-RRB- |
denotes |
) |
T6658 |
316-318 |
, |
denotes |
, |
T6659 |
318-326 |
VBG |
denotes |
encoding |
T6660 |
327-335 |
NN |
denotes |
inositol |
T6662 |
336-337 |
CD |
denotes |
1 |
T6664 |
337-338 |
, |
denotes |
, |
T6665 |
338-339 |
CD |
denotes |
4 |
T6666 |
339-340 |
, |
denotes |
, |
T6663 |
340-341 |
CD |
denotes |
5 |
T6668 |
341-342 |
HYPH |
denotes |
- |
T6667 |
342-354 |
NN |
denotes |
triphosphate |
T6661 |
355-363 |
NN |
denotes |
receptor |
T6669 |
364-365 |
CD |
denotes |
1 |
T6670 |
366-367 |
-LRB- |
denotes |
( |
T6671 |
367-372 |
NN |
denotes |
Itpr1 |
T6672 |
372-373 |
-RRB- |
denotes |
) |
T6673 |
373-374 |
. |
denotes |
. |
T6674 |
374-581 |
sentence |
denotes |
Sequencing of all exons and intron–exon boundaries of Itpr1 in affected mice from the current study revealed a single mutation within Itpr1: a novel in-frame deletion of 18 bp within exon 36 (Itpr1Δ18/Δ18). |
T6675 |
375-385 |
NN |
denotes |
Sequencing |
T6677 |
386-388 |
IN |
denotes |
of |
T6678 |
389-392 |
DT |
denotes |
all |
T6679 |
393-398 |
NNS |
denotes |
exons |
T6680 |
399-402 |
CC |
denotes |
and |
T6681 |
403-409 |
NN |
denotes |
intron |
T6683 |
409-410 |
HYPH |
denotes |
– |
T6682 |
410-414 |
NN |
denotes |
exon |
T6684 |
415-425 |
NNS |
denotes |
boundaries |
T6685 |
426-428 |
IN |
denotes |
of |
T6686 |
429-434 |
NN |
denotes |
Itpr1 |
T6687 |
435-437 |
IN |
denotes |
in |
T6688 |
438-446 |
VBN |
denotes |
affected |
T6689 |
447-451 |
NNS |
denotes |
mice |
T6690 |
452-456 |
IN |
denotes |
from |
T6691 |
457-460 |
DT |
denotes |
the |
T6693 |
461-468 |
JJ |
denotes |
current |
T6692 |
469-474 |
NN |
denotes |
study |
T6676 |
475-483 |
VBD |
denotes |
revealed |
T6694 |
484-485 |
DT |
denotes |
a |
T6696 |
486-492 |
JJ |
denotes |
single |
T6695 |
493-501 |
NN |
denotes |
mutation |
T6697 |
502-508 |
IN |
denotes |
within |
T6698 |
509-514 |
NN |
denotes |
Itpr1 |
T6699 |
514-516 |
: |
denotes |
: |
T6700 |
516-517 |
DT |
denotes |
a |
T6702 |
518-523 |
JJ |
denotes |
novel |
T6703 |
524-526 |
IN |
denotes |
in |
T6704 |
526-527 |
HYPH |
denotes |
- |
T6705 |
527-532 |
NN |
denotes |
frame |
T6701 |
533-541 |
NN |
denotes |
deletion |
T6706 |
542-544 |
IN |
denotes |
of |
T6707 |
545-547 |
CD |
denotes |
18 |
T6708 |
548-550 |
NN |
denotes |
bp |
T6709 |
551-557 |
IN |
denotes |
within |
T6710 |
558-562 |
NN |
denotes |
exon |
T6711 |
563-565 |
CD |
denotes |
36 |
T6712 |
566-567 |
-LRB- |
denotes |
( |
T6714 |
567-575 |
NN |
denotes |
Itpr1Δ18 |
T6715 |
575-576 |
HYPH |
denotes |
/ |
T6713 |
576-579 |
NN |
denotes |
Δ18 |
T6716 |
579-580 |
-RRB- |
denotes |
) |
T6717 |
580-581 |
. |
denotes |
. |
T6718 |
581-752 |
sentence |
denotes |
To confirm the pathogenicity of this mutation we crossed heterozygous mice from the current study (Itpr1wt/Δ18) with mice heterozygous for the opt mutation (Itpr1wt/opt). |
T6719 |
582-584 |
TO |
denotes |
To |
T6720 |
585-592 |
VB |
denotes |
confirm |
T6722 |
593-596 |
DT |
denotes |
the |
T6723 |
597-610 |
NN |
denotes |
pathogenicity |
T6724 |
611-613 |
IN |
denotes |
of |
T6725 |
614-618 |
DT |
denotes |
this |
T6726 |
619-627 |
NN |
denotes |
mutation |
T6727 |
628-630 |
PRP |
denotes |
we |
T6721 |
631-638 |
VBD |
denotes |
crossed |
T6728 |
639-651 |
JJ |
denotes |
heterozygous |
T6729 |
652-656 |
NNS |
denotes |
mice |
T6730 |
657-661 |
IN |
denotes |
from |
T6731 |
662-665 |
DT |
denotes |
the |
T6733 |
666-673 |
JJ |
denotes |
current |
T6732 |
674-679 |
NN |
denotes |
study |
T6734 |
680-681 |
-LRB- |
denotes |
( |
T6736 |
681-688 |
NN |
denotes |
Itpr1wt |
T6737 |
688-689 |
HYPH |
denotes |
/ |
T6735 |
689-692 |
NN |
denotes |
Δ18 |
T6738 |
692-693 |
-RRB- |
denotes |
) |
T6739 |
694-698 |
IN |
denotes |
with |
T6740 |
699-703 |
NNS |
denotes |
mice |
T6741 |
704-716 |
JJ |
denotes |
heterozygous |
T6742 |
717-720 |
IN |
denotes |
for |
T6743 |
721-724 |
DT |
denotes |
the |
T6745 |
725-728 |
NN |
denotes |
opt |
T6744 |
729-737 |
NN |
denotes |
mutation |
T6746 |
738-739 |
-LRB- |
denotes |
( |
T6748 |
739-746 |
NN |
denotes |
Itpr1wt |
T6749 |
746-747 |
HYPH |
denotes |
/ |
T6747 |
747-750 |
NN |
denotes |
opt |
T6750 |
750-751 |
-RRB- |
denotes |
) |
T6751 |
751-752 |
. |
denotes |
. |
T6752 |
752-951 |
sentence |
denotes |
This resulted in two litters of mice with a total of four affected Itpr1opt/Δ18 pups (from a total of 15) with a phenotype indistinguishable from that of the Itpr1Δ18/Δ18 and Itpr1opt /opt mice [1]. |
T6753 |
753-757 |
DT |
denotes |
This |
T6754 |
758-766 |
VBD |
denotes |
resulted |
T6755 |
767-769 |
IN |
denotes |
in |
T6756 |
770-773 |
CD |
denotes |
two |
T6757 |
774-781 |
NNS |
denotes |
litters |
T6758 |
782-784 |
IN |
denotes |
of |
T6759 |
785-789 |
NNS |
denotes |
mice |
T6760 |
790-794 |
IN |
denotes |
with |
T6761 |
795-796 |
DT |
denotes |
a |
T6762 |
797-802 |
NN |
denotes |
total |
T6763 |
803-805 |
IN |
denotes |
of |
T6764 |
806-810 |
CD |
denotes |
four |
T6766 |
811-819 |
VBN |
denotes |
affected |
T6767 |
820-828 |
NN |
denotes |
Itpr1opt |
T6769 |
828-829 |
HYPH |
denotes |
/ |
T6768 |
829-832 |
NN |
denotes |
Δ18 |
T6765 |
833-837 |
NNS |
denotes |
pups |
T6770 |
838-839 |
-LRB- |
denotes |
( |
T6771 |
839-843 |
IN |
denotes |
from |
T6772 |
844-845 |
DT |
denotes |
a |
T6773 |
846-851 |
NN |
denotes |
total |
T6774 |
852-854 |
IN |
denotes |
of |
T6775 |
855-857 |
CD |
denotes |
15 |
T6776 |
857-858 |
-RRB- |
denotes |
) |
T6777 |
859-863 |
IN |
denotes |
with |
T6778 |
864-865 |
DT |
denotes |
a |
T6779 |
866-875 |
NN |
denotes |
phenotype |
T6780 |
876-893 |
JJ |
denotes |
indistinguishable |
T6781 |
894-898 |
IN |
denotes |
from |
T6782 |
899-903 |
DT |
denotes |
that |
T6783 |
904-906 |
IN |
denotes |
of |
T6784 |
907-910 |
DT |
denotes |
the |
T6786 |
911-919 |
NN |
denotes |
Itpr1Δ18 |
T6788 |
919-920 |
HYPH |
denotes |
/ |
T6787 |
920-923 |
NN |
denotes |
Δ18 |
T6789 |
924-927 |
CC |
denotes |
and |
T6790 |
928-936 |
NN |
denotes |
Itpr1opt |
T6792 |
937-938 |
HYPH |
denotes |
/ |
T6791 |
938-941 |
NN |
denotes |
opt |
T6785 |
942-946 |
NNS |
denotes |
mice |
T6793 |
947-948 |
-LRB- |
denotes |
[ |
T6794 |
948-949 |
CD |
denotes |
1 |
T6795 |
949-950 |
-RRB- |
denotes |
] |
T6796 |
950-951 |
. |
denotes |
. |
T6797 |
951-1136 |
sentence |
denotes |
Furthermore, this phenotype was similar, although less severe, to that described in a mouse line with targeted deletion of Itpr1, where ataxia was described as a prominent feature [4]. |
T6798 |
952-963 |
RB |
denotes |
Furthermore |
T6800 |
963-965 |
, |
denotes |
, |
T6801 |
965-969 |
DT |
denotes |
this |
T6802 |
970-979 |
NN |
denotes |
phenotype |
T6799 |
980-983 |
VBD |
denotes |
was |
T6803 |
984-991 |
JJ |
denotes |
similar |
T6804 |
991-993 |
, |
denotes |
, |
T6805 |
993-1001 |
IN |
denotes |
although |
T6807 |
1002-1006 |
RBR |
denotes |
less |
T6806 |
1007-1013 |
JJ |
denotes |
severe |
T6808 |
1013-1015 |
, |
denotes |
, |
T6809 |
1015-1017 |
IN |
denotes |
to |
T6810 |
1018-1022 |
DT |
denotes |
that |
T6811 |
1023-1032 |
VBN |
denotes |
described |
T6812 |
1033-1035 |
IN |
denotes |
in |
T6813 |
1036-1037 |
DT |
denotes |
a |
T6815 |
1038-1043 |
NN |
denotes |
mouse |
T6814 |
1044-1048 |
NN |
denotes |
line |
T6816 |
1049-1053 |
IN |
denotes |
with |
T6817 |
1054-1062 |
VBN |
denotes |
targeted |
T6818 |
1063-1071 |
NN |
denotes |
deletion |
T6819 |
1072-1074 |
IN |
denotes |
of |
T6820 |
1075-1080 |
NN |
denotes |
Itpr1 |
T6821 |
1080-1082 |
, |
denotes |
, |
T6822 |
1082-1087 |
WRB |
denotes |
where |
T6824 |
1088-1094 |
NN |
denotes |
ataxia |
T6825 |
1095-1098 |
VBD |
denotes |
was |
T6823 |
1099-1108 |
VBN |
denotes |
described |
T6826 |
1109-1111 |
IN |
denotes |
as |
T6827 |
1112-1113 |
DT |
denotes |
a |
T6829 |
1114-1123 |
JJ |
denotes |
prominent |
T6828 |
1124-1131 |
NN |
denotes |
feature |
T6830 |
1132-1133 |
-LRB- |
denotes |
[ |
T6831 |
1133-1134 |
CD |
denotes |
4 |
T6832 |
1134-1135 |
-RRB- |
denotes |
] |
T6833 |
1135-1136 |
. |
denotes |
. |
T6834 |
1136-1397 |
sentence |
denotes |
As with the Itpr1opt /opt mice, where the deletion of exons 43 and 44 is also predicted to leave the translational reading frame unaffected, the in-frame Itpr1Δ18/Δ18 deletion mutation results in markedly decreased levels of Itpr1 in cerebellar Purkinje cells. |
T6835 |
1137-1139 |
IN |
denotes |
As |
T6837 |
1140-1144 |
IN |
denotes |
with |
T6838 |
1145-1148 |
DT |
denotes |
the |
T6840 |
1149-1157 |
NN |
denotes |
Itpr1opt |
T6842 |
1158-1159 |
HYPH |
denotes |
/ |
T6841 |
1159-1162 |
NN |
denotes |
opt |
T6839 |
1163-1167 |
NNS |
denotes |
mice |
T6843 |
1167-1169 |
, |
denotes |
, |
T6844 |
1169-1174 |
WRB |
denotes |
where |
T6846 |
1175-1178 |
DT |
denotes |
the |
T6847 |
1179-1187 |
NN |
denotes |
deletion |
T6848 |
1188-1190 |
IN |
denotes |
of |
T6849 |
1191-1196 |
NNS |
denotes |
exons |
T6850 |
1197-1199 |
CD |
denotes |
43 |
T6851 |
1200-1203 |
CC |
denotes |
and |
T6852 |
1204-1206 |
CD |
denotes |
44 |
T6853 |
1207-1209 |
VBZ |
denotes |
is |
T6854 |
1210-1214 |
RB |
denotes |
also |
T6845 |
1215-1224 |
VBN |
denotes |
predicted |
T6855 |
1225-1227 |
TO |
denotes |
to |
T6856 |
1228-1233 |
VB |
denotes |
leave |
T6857 |
1234-1237 |
DT |
denotes |
the |
T6859 |
1238-1251 |
JJ |
denotes |
translational |
T6860 |
1252-1259 |
NN |
denotes |
reading |
T6858 |
1260-1265 |
NN |
denotes |
frame |
T6861 |
1266-1276 |
JJ |
denotes |
unaffected |
T6862 |
1276-1278 |
, |
denotes |
, |
T6863 |
1278-1281 |
DT |
denotes |
the |
T6865 |
1282-1284 |
IN |
denotes |
in |
T6866 |
1284-1285 |
HYPH |
denotes |
- |
T6867 |
1285-1290 |
NN |
denotes |
frame |
T6868 |
1291-1299 |
NN |
denotes |
Itpr1Δ18 |
T6870 |
1299-1300 |
HYPH |
denotes |
/ |
T6869 |
1300-1303 |
NN |
denotes |
Δ18 |
T6871 |
1304-1312 |
NN |
denotes |
deletion |
T6864 |
1313-1321 |
NN |
denotes |
mutation |
T6836 |
1322-1329 |
VBZ |
denotes |
results |
T6872 |
1330-1332 |
IN |
denotes |
in |
T6873 |
1333-1341 |
RB |
denotes |
markedly |
T6874 |
1342-1351 |
VBN |
denotes |
decreased |
T6875 |
1352-1358 |
NNS |
denotes |
levels |
T6876 |
1359-1361 |
IN |
denotes |
of |
T6877 |
1362-1367 |
NN |
denotes |
Itpr1 |
T6878 |
1368-1370 |
IN |
denotes |
in |
T6879 |
1371-1381 |
JJ |
denotes |
cerebellar |
T6881 |
1382-1390 |
NNP |
denotes |
Purkinje |
T6880 |
1391-1396 |
NNS |
denotes |
cells |
T6882 |
1396-1397 |
. |
denotes |
. |
T6883 |
1397-1605 |
sentence |
denotes |
In these two spontaneous mutants [1] and in the Itpr1-deficient mouse [4] generated by gene targeting, decreased Itpr1 expression is associated with the same autosomal recessive movement disorder (Figure 1). |
T6884 |
1398-1400 |
IN |
denotes |
In |
T6886 |
1401-1406 |
DT |
denotes |
these |
T6888 |
1407-1410 |
CD |
denotes |
two |
T6889 |
1411-1422 |
JJ |
denotes |
spontaneous |
T6887 |
1423-1430 |
NNS |
denotes |
mutants |
T6890 |
1431-1432 |
-LRB- |
denotes |
[ |
T6891 |
1432-1433 |
CD |
denotes |
1 |
T6892 |
1433-1434 |
-RRB- |
denotes |
] |
T6893 |
1435-1438 |
CC |
denotes |
and |
T6894 |
1439-1441 |
IN |
denotes |
in |
T6895 |
1442-1445 |
DT |
denotes |
the |
T6897 |
1446-1451 |
NN |
denotes |
Itpr1 |
T6899 |
1451-1452 |
HYPH |
denotes |
- |
T6898 |
1452-1461 |
JJ |
denotes |
deficient |
T6896 |
1462-1467 |
NN |
denotes |
mouse |
T6900 |
1468-1469 |
-LRB- |
denotes |
[ |
T6901 |
1469-1470 |
CD |
denotes |
4 |
T6902 |
1470-1471 |
-RRB- |
denotes |
] |
T6903 |
1472-1481 |
VBN |
denotes |
generated |
T6904 |
1482-1484 |
IN |
denotes |
by |
T6905 |
1485-1489 |
NN |
denotes |
gene |
T6906 |
1490-1499 |
NN |
denotes |
targeting |
T6907 |
1499-1501 |
, |
denotes |
, |
T6908 |
1501-1510 |
VBN |
denotes |
decreased |
T6910 |
1511-1516 |
NN |
denotes |
Itpr1 |
T6909 |
1517-1527 |
NN |
denotes |
expression |
T6911 |
1528-1530 |
VBZ |
denotes |
is |
T6885 |
1531-1541 |
VBN |
denotes |
associated |
T6912 |
1542-1546 |
IN |
denotes |
with |
T6913 |
1547-1550 |
DT |
denotes |
the |
T6915 |
1551-1555 |
JJ |
denotes |
same |
T6916 |
1556-1565 |
JJ |
denotes |
autosomal |
T6917 |
1566-1575 |
JJ |
denotes |
recessive |
T6918 |
1576-1584 |
NN |
denotes |
movement |
T6914 |
1585-1593 |
NN |
denotes |
disorder |
T6919 |
1594-1595 |
-LRB- |
denotes |
( |
T6920 |
1595-1601 |
NN |
denotes |
Figure |
T6921 |
1602-1603 |
CD |
denotes |
1 |
T6922 |
1603-1604 |
-RRB- |
denotes |
) |
T6923 |
1604-1605 |
. |
denotes |
. |
R1000 |
T6861 |
T6856 |
oprd |
unaffected,leave |
R1003 |
T6862 |
T6836 |
punct |
", ",results |
R1007 |
T6863 |
T6864 |
det |
the,mutation |
R1010 |
T6864 |
T6836 |
nsubj |
mutation,results |
R1013 |
T6865 |
T6864 |
nmod |
in,mutation |
R1016 |
T6866 |
T6865 |
punct |
-,in |
R1020 |
T6867 |
T6865 |
pobj |
frame,in |
R1027 |
T6868 |
T6869 |
compound |
Itpr1Δ18,Δ18 |
R1031 |
T6869 |
T6864 |
compound |
Δ18,mutation |
R1035 |
T6870 |
T6869 |
punct |
/,Δ18 |
R1038 |
T6871 |
T6864 |
compound |
deletion,mutation |
R1042 |
T6872 |
T6836 |
prep |
in,results |
R1046 |
T6873 |
T6874 |
advmod |
markedly,decreased |
R1050 |
T6874 |
T6875 |
amod |
decreased,levels |
R1054 |
T6875 |
T6872 |
pobj |
levels,in |
R1058 |
T6876 |
T6875 |
prep |
of,levels |
R1062 |
T6877 |
T6876 |
pobj |
Itpr1,of |
R1066 |
T6878 |
T6836 |
prep |
in,results |
R1068 |
T6879 |
T6880 |
amod |
cerebellar,cells |
R1071 |
T6880 |
T6878 |
pobj |
cells,in |
R1078 |
T6881 |
T6880 |
compound |
Purkinje,cells |
R1082 |
T6882 |
T6836 |
punct |
.,results |
R1086 |
T6884 |
T6885 |
prep |
In,associated |
R1091 |
T6886 |
T6887 |
det |
these,mutants |
R1096 |
T6887 |
T6884 |
pobj |
mutants,In |
R1097 |
T6888 |
T6887 |
nummod |
two,mutants |
R1100 |
T6889 |
T6887 |
amod |
spontaneous,mutants |
R1103 |
T6890 |
T6891 |
punct |
[,1 |
R1104 |
T6891 |
T6887 |
parataxis |
1,mutants |
R1105 |
T6892 |
T6891 |
punct |
],1 |
R1109 |
T6893 |
T6884 |
cc |
and,In |
R1111 |
T6894 |
T6884 |
conj |
in,In |
R576 |
T6599 |
T6600 |
compound |
Literature,searches |
R577 |
T6600 |
T6601 |
nsubj |
searches,revealed |
R579 |
T6602 |
T6603 |
mark |
that,displays |
R581 |
T6603 |
T6601 |
ccomp |
displays,revealed |
R582 |
T6604 |
T6603 |
prep |
among,displays |
R583 |
T6605 |
T6606 |
compound |
disease,lines |
R585 |
T6606 |
T6604 |
pobj |
lines,among |
R586 |
T6607 |
T6606 |
acl |
mapped,lines |
R587 |
T6608 |
T6607 |
prep |
to,mapped |
R589 |
T6609 |
T6608 |
pobj |
6qE1,to |
R590 |
T6610 |
T6603 |
punct |
", ",displays |
R592 |
T6611 |
T6612 |
det |
the,mutant |
R593 |
T6612 |
T6603 |
nsubj |
mutant,displays |
R594 |
T6613 |
T6612 |
amod |
spontaneous,mutant |
R596 |
T6614 |
T6615 |
compound |
opt,mouse |
R597 |
T6615 |
T6612 |
appos |
mouse,mutant |
R598 |
T6616 |
T6617 |
det |
a,presentation |
R599 |
T6617 |
T6603 |
dobj |
presentation,displays |
R601 |
T6618 |
T6619 |
advmod |
strikingly,similar |
R602 |
T6619 |
T6617 |
amod |
similar,presentation |
R604 |
T6620 |
T6617 |
prep |
to,presentation |
R605 |
T6621 |
T6620 |
pobj |
that,to |
R606 |
T6622 |
T6621 |
acl |
described,that |
R607 |
T6623 |
T6622 |
advmod |
here,described |
R609 |
T6624 |
T6625 |
punct |
[,1 |
R610 |
T6625 |
T6601 |
parataxis |
1,revealed |
R611 |
T6626 |
T6625 |
punct |
],1 |
R612 |
T6627 |
T6601 |
punct |
.,revealed |
R615 |
T6629 |
T6630 |
det |
The,lesion |
R616 |
T6630 |
T6633 |
nsubj |
lesion,is |
R617 |
T6631 |
T6630 |
amod |
underlying,lesion |
R618 |
T6632 |
T6630 |
amod |
genetic,lesion |
R620 |
T6634 |
T6630 |
acl |
causing,lesion |
R622 |
T6635 |
T6636 |
det |
the,phenotype |
R623 |
T6636 |
T6634 |
dobj |
phenotype,causing |
R624 |
T6637 |
T6636 |
compound |
opt,phenotype |
R626 |
T6638 |
T6639 |
det |
a,deletion |
R627 |
T6639 |
T6633 |
attr |
deletion,is |
R628 |
T6640 |
T6639 |
amod |
homozygous,deletion |
R629 |
T6641 |
T6642 |
nmod |
in,frame |
R631 |
T6642 |
T6639 |
compound |
frame,deletion |
R632 |
T6643 |
T6642 |
punct |
-,frame |
R634 |
T6644 |
T6639 |
prep |
of,deletion |
R635 |
T6645 |
T6646 |
nmod |
exons,43 |
R636 |
T6646 |
T6644 |
pobj |
43,of |
R638 |
T6647 |
T6646 |
cc |
and,43 |
R639 |
T6648 |
T6646 |
conj |
44,43 |
R640 |
T6649 |
T6646 |
prep |
of,43 |
R642 |
T6650 |
T6651 |
det |
the,Itpr1 |
R643 |
T6651 |
T6649 |
pobj |
Itpr1,of |
R644 |
T6652 |
T6651 |
compound |
gene,Itpr1 |
R646 |
T6653 |
T6654 |
punct |
(,opt |
R647 |
T6654 |
T6651 |
parataxis |
opt,Itpr1 |
R648 |
T6655 |
T6654 |
compound |
Itpr1opt,opt |
R650 |
T6656 |
T6654 |
punct |
/,opt |
R651 |
T6657 |
T6654 |
punct |
),opt |
R652 |
T6658 |
T6646 |
punct |
", ",43 |
R653 |
T6659 |
T6646 |
acl |
encoding,43 |
R655 |
T6660 |
T6661 |
nmod |
inositol,receptor |
R656 |
T6661 |
T6659 |
dobj |
receptor,encoding |
R657 |
T6662 |
T6663 |
nummod |
1,5 |
R658 |
T6663 |
T6667 |
nummod |
5,triphosphate |
R659 |
T6664 |
T6663 |
punct |
",",5 |
R660 |
T6665 |
T6663 |
nummod |
4,5 |
R661 |
T6666 |
T6663 |
punct |
",",5 |
R662 |
T6667 |
T6661 |
compound |
triphosphate,receptor |
R663 |
T6668 |
T6667 |
punct |
-,triphosphate |
R665 |
T6669 |
T6661 |
nummod |
1,receptor |
R666 |
T6670 |
T6671 |
punct |
(,Itpr1 |
R667 |
T6671 |
T6661 |
parataxis |
Itpr1,receptor |
R669 |
T6672 |
T6671 |
punct |
),Itpr1 |
R670 |
T6673 |
T6633 |
punct |
.,is |
R672 |
T6675 |
T6676 |
nsubj |
Sequencing,revealed |
R674 |
T6677 |
T6675 |
prep |
of,Sequencing |
R676 |
T6678 |
T6679 |
det |
all,exons |
R677 |
T6679 |
T6677 |
pobj |
exons,of |
R679 |
T6680 |
T6679 |
cc |
and,exons |
R680 |
T6681 |
T6682 |
compound |
intron,exon |
R681 |
T6682 |
T6684 |
compound |
exon,boundaries |
R683 |
T6683 |
T6682 |
punct |
–,exon |
R686 |
T6684 |
T6679 |
conj |
boundaries,exons |
R688 |
T6685 |
T6684 |
prep |
of,boundaries |
R689 |
T6686 |
T6685 |
pobj |
Itpr1,of |
R691 |
T6687 |
T6679 |
prep |
in,exons |
R692 |
T6688 |
T6689 |
amod |
affected,mice |
R694 |
T6689 |
T6687 |
pobj |
mice,in |
R695 |
T6690 |
T6689 |
prep |
from,mice |
R697 |
T6691 |
T6692 |
det |
the,study |
R698 |
T6692 |
T6690 |
pobj |
study,from |
R699 |
T6693 |
T6692 |
amod |
current,study |
R701 |
T6694 |
T6695 |
det |
a,mutation |
R702 |
T6695 |
T6676 |
dobj |
mutation,revealed |
R703 |
T6696 |
T6695 |
amod |
single,mutation |
R705 |
T6697 |
T6695 |
prep |
within,mutation |
R706 |
T6698 |
T6697 |
pobj |
Itpr1,within |
R707 |
T6699 |
T6695 |
punct |
: ,mutation |
R709 |
T6700 |
T6701 |
det |
a,deletion |
R710 |
T6701 |
T6695 |
appos |
deletion,mutation |
R711 |
T6702 |
T6701 |
amod |
novel,deletion |
R712 |
T6703 |
T6701 |
nmod |
in,deletion |
R713 |
T6704 |
T6703 |
punct |
-,in |
R714 |
T6705 |
T6703 |
pobj |
frame,in |
R716 |
T6706 |
T6701 |
prep |
of,deletion |
R717 |
T6707 |
T6708 |
nummod |
18,bp |
R718 |
T6708 |
T6706 |
pobj |
bp,of |
R720 |
T6709 |
T6701 |
prep |
within,deletion |
R722 |
T6710 |
T6709 |
pobj |
exon,within |
R723 |
T6711 |
T6710 |
nummod |
36,exon |
R724 |
T6712 |
T6713 |
punct |
(,Δ18 |
R725 |
T6713 |
T6701 |
parataxis |
Δ18,deletion |
R727 |
T6714 |
T6713 |
compound |
Itpr1Δ18,Δ18 |
R728 |
T6715 |
T6713 |
punct |
/,Δ18 |
R729 |
T6716 |
T6713 |
punct |
),Δ18 |
R731 |
T6717 |
T6676 |
punct |
.,revealed |
R732 |
T6719 |
T6720 |
aux |
To,confirm |
R734 |
T6720 |
T6721 |
advcl |
confirm,crossed |
R735 |
T6722 |
T6723 |
det |
the,pathogenicity |
R737 |
T6723 |
T6720 |
dobj |
pathogenicity,confirm |
R738 |
T6724 |
T6723 |
prep |
of,pathogenicity |
R739 |
T6725 |
T6726 |
det |
this,mutation |
R741 |
T6726 |
T6724 |
pobj |
mutation,of |
R742 |
T6727 |
T6721 |
nsubj |
we,crossed |
R744 |
T6728 |
T6729 |
amod |
heterozygous,mice |
R745 |
T6729 |
T6721 |
dobj |
mice,crossed |
R746 |
T6730 |
T6729 |
prep |
from,mice |
R747 |
T6731 |
T6732 |
det |
the,study |
R749 |
T6732 |
T6730 |
pobj |
study,from |
R750 |
T6733 |
T6732 |
amod |
current,study |
R752 |
T6734 |
T6735 |
punct |
(,Δ18 |
R753 |
T6735 |
T6730 |
parataxis |
Δ18,from |
R754 |
T6736 |
T6735 |
compound |
Itpr1wt,Δ18 |
R755 |
T6737 |
T6735 |
punct |
/,Δ18 |
R757 |
T6738 |
T6735 |
punct |
),Δ18 |
R758 |
T6739 |
T6721 |
prep |
with,crossed |
R759 |
T6789 |
T6787 |
cc |
and,Δ18 |
R760 |
T6740 |
T6739 |
pobj |
mice,with |
R761 |
T6741 |
T6740 |
amod |
heterozygous,mice |
R762 |
T6742 |
T6741 |
prep |
for,heterozygous |
R763 |
T6743 |
T6744 |
det |
the,mutation |
R764 |
T6744 |
T6742 |
pobj |
mutation,for |
R765 |
T6745 |
T6744 |
compound |
opt,mutation |
R766 |
T6746 |
T6747 |
punct |
(,opt |
R767 |
T6747 |
T6740 |
parataxis |
opt,mice |
R768 |
T6748 |
T6747 |
compound |
Itpr1wt,opt |
R769 |
T6749 |
T6747 |
punct |
/,opt |
R770 |
T6790 |
T6791 |
compound |
Itpr1opt,opt |
R771 |
T6750 |
T6747 |
punct |
),opt |
R772 |
T6751 |
T6721 |
punct |
.,crossed |
R773 |
T6791 |
T6787 |
conj |
opt,Δ18 |
R774 |
T6753 |
T6754 |
nsubj |
This,resulted |
R775 |
T6755 |
T6754 |
prep |
in,resulted |
R776 |
T6792 |
T6791 |
punct |
/,opt |
R777 |
T6756 |
T6757 |
nummod |
two,litters |
R778 |
T6757 |
T6755 |
pobj |
litters,in |
R779 |
T6758 |
T6757 |
prep |
of,litters |
R780 |
T6793 |
T6794 |
punct |
[,1 |
R781 |
T6759 |
T6758 |
pobj |
mice,of |
R782 |
T6760 |
T6757 |
prep |
with,litters |
R783 |
T6761 |
T6762 |
det |
a,total |
R784 |
T6794 |
T6754 |
parataxis |
1,resulted |
R785 |
T6762 |
T6760 |
pobj |
total,with |
R786 |
T6795 |
T6794 |
punct |
],1 |
R787 |
T6763 |
T6762 |
prep |
of,total |
R788 |
T6796 |
T6754 |
punct |
.,resulted |
R789 |
T6764 |
T6765 |
nummod |
four,pups |
R790 |
T6765 |
T6763 |
pobj |
pups,of |
R791 |
T6766 |
T6765 |
amod |
affected,pups |
R792 |
T6798 |
T6799 |
advmod |
Furthermore,was |
R793 |
T6767 |
T6768 |
compound |
Itpr1opt,Δ18 |
R794 |
T6768 |
T6765 |
compound |
Δ18,pups |
R795 |
T6769 |
T6768 |
punct |
/,Δ18 |
R796 |
T6770 |
T6762 |
punct |
(,total |
R797 |
T6800 |
T6799 |
punct |
", ",was |
R798 |
T6771 |
T6762 |
prep |
from,total |
R799 |
T6772 |
T6773 |
det |
a,total |
R800 |
T6773 |
T6771 |
pobj |
total,from |
R801 |
T6801 |
T6802 |
det |
this,phenotype |
R802 |
T6774 |
T6773 |
prep |
of,total |
R803 |
T6775 |
T6774 |
pobj |
15,of |
R804 |
T6776 |
T6762 |
punct |
),total |
R805 |
T6802 |
T6799 |
nsubj |
phenotype,was |
R806 |
T6777 |
T6762 |
prep |
with,total |
R807 |
T6778 |
T6779 |
det |
a,phenotype |
R808 |
T6779 |
T6777 |
pobj |
phenotype,with |
R809 |
T6803 |
T6799 |
acomp |
similar,was |
R810 |
T6780 |
T6779 |
amod |
indistinguishable,phenotype |
R811 |
T6781 |
T6780 |
prep |
from,indistinguishable |
R812 |
T6782 |
T6781 |
pobj |
that,from |
R813 |
T6783 |
T6782 |
prep |
of,that |
R814 |
T6784 |
T6785 |
det |
the,mice |
R815 |
T6785 |
T6783 |
pobj |
mice,of |
R816 |
T6804 |
T6799 |
punct |
", ",was |
R817 |
T6786 |
T6787 |
nmod |
Itpr1Δ18,Δ18 |
R818 |
T6787 |
T6785 |
nmod |
Δ18,mice |
R819 |
T6788 |
T6787 |
punct |
/,Δ18 |
R820 |
T6805 |
T6806 |
mark |
although,severe |
R821 |
T6806 |
T6799 |
advcl |
severe,was |
R822 |
T6807 |
T6806 |
advmod |
less,severe |
R823 |
T6895 |
T6896 |
det |
the,mouse |
R824 |
T6808 |
T6799 |
punct |
", ",was |
R825 |
T6896 |
T6894 |
pobj |
mouse,in |
R826 |
T6897 |
T6898 |
npadvmod |
Itpr1,deficient |
R827 |
T6898 |
T6896 |
amod |
deficient,mouse |
R828 |
T6809 |
T6799 |
prep |
to,was |
R829 |
T6899 |
T6898 |
punct |
-,deficient |
R830 |
T6810 |
T6809 |
pobj |
that,to |
R831 |
T6900 |
T6901 |
punct |
[,4 |
R832 |
T6901 |
T6896 |
parataxis |
4,mouse |
R833 |
T6902 |
T6901 |
punct |
],4 |
R834 |
T6811 |
T6810 |
acl |
described,that |
R835 |
T6903 |
T6896 |
acl |
generated,mouse |
R836 |
T6904 |
T6903 |
prep |
by,generated |
R837 |
T6905 |
T6906 |
compound |
gene,targeting |
R838 |
T6906 |
T6904 |
pobj |
targeting,by |
R839 |
T6812 |
T6811 |
prep |
in,described |
R840 |
T6907 |
T6885 |
punct |
", ",associated |
R841 |
T6908 |
T6909 |
amod |
decreased,expression |
R842 |
T6813 |
T6814 |
det |
a,line |
R843 |
T6909 |
T6885 |
nsubjpass |
expression,associated |
R844 |
T6910 |
T6909 |
compound |
Itpr1,expression |
R845 |
T6911 |
T6885 |
auxpass |
is,associated |
R846 |
T6814 |
T6812 |
pobj |
line,in |
R847 |
T6912 |
T6885 |
prep |
with,associated |
R848 |
T6913 |
T6914 |
det |
the,disorder |
R849 |
T6914 |
T6912 |
pobj |
disorder,with |
R850 |
T6915 |
T6914 |
amod |
same,disorder |
R851 |
T6815 |
T6814 |
compound |
mouse,line |
R852 |
T6916 |
T6914 |
amod |
autosomal,disorder |
R853 |
T6917 |
T6914 |
amod |
recessive,disorder |
R854 |
T6816 |
T6814 |
prep |
with,line |
R855 |
T6918 |
T6914 |
compound |
movement,disorder |
R856 |
T6919 |
T6920 |
punct |
(,Figure |
R857 |
T6920 |
T6885 |
parataxis |
Figure,associated |
R858 |
T6921 |
T6920 |
nummod |
1,Figure |
R859 |
T6817 |
T6818 |
amod |
targeted,deletion |
R860 |
T6922 |
T6920 |
punct |
),Figure |
R861 |
T6923 |
T6885 |
punct |
.,associated |
R862 |
T6818 |
T6816 |
pobj |
deletion,with |
R868 |
T6819 |
T6818 |
prep |
of,deletion |
R871 |
T6820 |
T6819 |
pobj |
Itpr1,of |
R872 |
T6821 |
T6820 |
punct |
", ",Itpr1 |
R875 |
T6822 |
T6823 |
advmod |
where,described |
R876 |
T6823 |
T6820 |
relcl |
described,Itpr1 |
R878 |
T6824 |
T6823 |
nsubjpass |
ataxia,described |
R881 |
T6825 |
T6823 |
auxpass |
was,described |
R884 |
T6826 |
T6823 |
prep |
as,described |
R886 |
T6827 |
T6828 |
det |
a,feature |
R890 |
T6828 |
T6826 |
pobj |
feature,as |
R893 |
T6829 |
T6828 |
amod |
prominent,feature |
R897 |
T6830 |
T6831 |
punct |
[,4 |
R901 |
T6831 |
T6799 |
parataxis |
4,was |
R905 |
T6832 |
T6831 |
punct |
],4 |
R908 |
T6833 |
T6799 |
punct |
.,was |
R912 |
T6835 |
T6836 |
prep |
As,results |
R916 |
T6837 |
T6835 |
prep |
with,As |
R923 |
T6838 |
T6839 |
det |
the,mice |
R927 |
T6839 |
T6837 |
pobj |
mice,with |
R931 |
T6840 |
T6841 |
compound |
Itpr1opt,opt |
R934 |
T6841 |
T6839 |
compound |
opt,mice |
R937 |
T6842 |
T6841 |
punct |
/,opt |
R940 |
T6843 |
T6839 |
punct |
", ",mice |
R944 |
T6844 |
T6845 |
advmod |
where,predicted |
R948 |
T6845 |
T6839 |
relcl |
predicted,mice |
R952 |
T6846 |
T6847 |
det |
the,deletion |
R955 |
T6847 |
T6845 |
nsubjpass |
deletion,predicted |
R959 |
T6848 |
T6847 |
prep |
of,deletion |
R962 |
T6849 |
T6850 |
nmod |
exons,43 |
R963 |
T6850 |
T6848 |
pobj |
43,of |
R965 |
T6851 |
T6850 |
cc |
and,43 |
R972 |
T6852 |
T6850 |
conj |
44,43 |
R976 |
T6853 |
T6845 |
auxpass |
is,predicted |
R980 |
T6854 |
T6845 |
advmod |
also,predicted |
R984 |
T6855 |
T6856 |
aux |
to,leave |
R986 |
T6856 |
T6845 |
xcomp |
leave,predicted |
R987 |
T6857 |
T6858 |
det |
the,frame |
R990 |
T6858 |
T6856 |
dobj |
frame,leave |
R993 |
T6859 |
T6858 |
amod |
translational,frame |
R996 |
T6860 |
T6858 |
compound |
reading,frame |