Figure 1  Analysis of Aqp2 Sequence and Phenotype in Mutant Mice
(A) Chromatographic traces of Aqp2 F204V mutation. The box shows the mutated codon, TTC (Phe) to GTC (Val) at position 204.
WT, wild type; Mut, mutant.
(B) Amino acid conservation of mouse AQP2 (residues 194–214). The boxed residue indicates phenylalanine at position 204.
hAQP2, human AQP2; mAQP1, mouse AQP1; mAQP2, mouse AQP2; rAQP2, rat AQP2; xAQP2, Xenopus AQP2.
(C) Urine production (ml) and water consumption (ml) of 58 F2 mice over a 24-h period (both sexes, aged 10–22 wk). Mutant mice (black squares) exhibit overt polyuria and polydipsia compared to littermate wild-type (white triangles) and heterozygous (grey circles) mice.
(D) Urine osmolality and concentrating ability in Aqp2 mutant and their littermates (10–22 wk, both sexes), before (white bars) and after (black bars) dDAVP treatment. Wild type (WT; n = 12); heterozygote (Het; n = 20); mutant (Mut; n = 9). Data represent averages ± standard error of the mean, **p < 0.01; ***p < 0.001.