Mouse Genome Informatics
hm
    Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice can survive to adulthood, but ~40% die around weaning
• at weaning, mice given single dose of sterile water show increased survival; all injected mice survive 6 months and beyond

growth/size

behavior/neurological
• water consumption is 3-fold higher than controls

renal/urinary system
• in response to desmopressin, mutants are resistant compared to wild-type mice which show a reduction in urine volume and increase in urine osmolality at 4 weeks
• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks
• papilla displays atrophy at 4 weeks
• kidneys show enlargement due to hydronephrosis in 4 week-old mice
• urine output in 12 hours is significantly increased relative to wild-type
• at 8 weeks of age, urine output is ~2 times that at of mice at 4 weeks of age, when normalized for body weight, but osmolality is relatively unchanged at the 2 timepoints

homeostasis/metabolism
• BUN level is elevated significantly at 4 weeks relative to heterozygous or wild-type mice
• likely cause of observed mortality
• in response to desmopressin, mutants are resistant compared to wild-type mice which show a reduction in urine volume and increase in urine osmolality at 4 weeks
• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks

hematopoietic system

reproductive system
N
• males and females are fertile (J:121445)

integument
• mice have dry fur

Mouse Models of Human Disease
OMIM IDRef(s)
Diabetes Insipidus, Nephrogenic, Autosomal 125800 J:121445