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Similar to hemizygous TTD mice carrying one true Xpd knockout allele (XpdTTD/KO), compound heterozygous XpdTTD/†XPCS mice were born at the expected Mendelian frequencies. Expression from the Xpd†XPCS allele was also reduced in the testis of compound heterozygous animals, whereas expression from the XpdTTD allele was increased relative to wt by ~5-fold (Figure 1E). Because of a lack of available antibodies and the inability to distinguish amongst various mutant forms of XPD differing only by single amino acid substitutions, we were unable to ascertain the relative amount of XPD protein from the different alleles."}

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{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T1861","span":{"begin":38,"end":44},"obj":"GO_EXT:fatality_or_lethality"},{"id":"T1862","span":{"begin":46,"end":50},"obj":"SO_EXT:sequence_nullness"},{"id":"T1863","span":{"begin":52,"end":58},"obj":"SO_EXT:0001023"},{"id":"T1864","span":{"begin":89,"end":99},"obj":"NCBITaxon:1"},{"id":"T1865","span":{"begin":126,"end":129},"obj":"PR_EXT:000007164"},{"id":"T1866","span":{"begin":135,"end":141},"obj":"SO_EXT:0001023"},{"id":"T1867","span":{"begin":156,"end":159},"obj":"PR_EXT:000007164"},{"id":"T1868","span":{"begin":163,"end":169},"obj":"SO_EXT:0001023"},{"id":"T1869","span":{"begin":213,"end":220},"obj":"NCBITaxon:33208"},{"id":"T1870","span":{"begin":248,"end":252},"obj":"NCBITaxon:10088"},{"id":"T1871","span":{"begin":271,"end":274},"obj":"PR_EXT:000007164"},{"id":"T1872","span":{"begin":284,"end":290},"obj":"SO_EXT:0001023"},{"id":"T1873","span":{"begin":292,"end":295},"obj":"PR_EXT:000007164"},{"id":"T1874","span":{"begin":326,"end":329},"obj":"PR_EXT:000007164"},{"id":"T1875","span":{"begin":339,"end":343},"obj":"NCBITaxon:10088"},{"id":"T1876","span":{"begin":349,"end":353},"obj":"GO:0007567"},{"id":"T1877","span":{"begin":393,"end":403},"obj":"GO:0010467"},{"id":"T1878","span":{"begin":413,"end":416},"obj":"PR_EXT:000007164"},{"id":"T1879","span":{"begin":422,"end":428},"obj":"SO_EXT:0001023"},{"id":"T1880","span":{"begin":453,"end":459},"obj":"UBERON:0000473"},{"id":"T1881","span":{"begin":485,"end":492},"obj":"NCBITaxon:33208"},{"id":"T1882","span":{"begin":502,"end":512},"obj":"GO:0010467"},{"id":"T1883","span":{"begin":522,"end":525},"obj":"PR_EXT:000007164"},{"id":"T1884","span":{"begin":529,"end":535},"obj":"SO_EXT:0001023"},{"id":"T1885","span":{"begin":562,"end":564},"obj":"SO_EXT:wild_type_entity_or_quality"},{"id":"T1886","span":{"begin":620,"end":630},"obj":"GO:0042571"},{"id":"T1887","span":{"begin":680,"end":686},"obj":"SO_EXT:sequence_altered_entity_or_alteration_process"},{"id":"T1888","span":{"begin":696,"end":699},"obj":"PR_EXT:000007164"},{"id":"T1889","span":{"begin":725,"end":735},"obj":"CHEBI_SO_EXT:amino_acid"},{"id":"T1890","span":{"begin":736,"end":749},"obj":"SO_EXT:sequence_substitution_entity_or_process"},{"id":"T1891","span":{"begin":802,"end":805},"obj":"PR_EXT:000007164"},{"id":"T1892","span":{"begin":806,"end":813},"obj":"CHEBI_PR_EXT:protein"},{"id":"T1893","span":{"begin":833,"end":840},"obj":"SO_EXT:0001023"}],"text":"To test the potential of a homozygous lethal “null” allele to nevertheless contribute to organismal phenotype, we combined an Xpd†XPCS allele with a viable XpdTTD allele by crossing the corresponding heterozygous animals. Similar to hemizygous TTD mice carrying one true Xpd knockout allele (XpdTTD/KO), compound heterozygous XpdTTD/†XPCS mice were born at the expected Mendelian frequencies. Expression from the Xpd†XPCS allele was also reduced in the testis of compound heterozygous animals, whereas expression from the XpdTTD allele was increased relative to wt by ~5-fold (Figure 1E). Because of a lack of available antibodies and the inability to distinguish amongst various mutant forms of XPD differing only by single amino acid substitutions, we were unable to ascertain the relative amount of XPD protein from the different alleles."}