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Phenotypes Associated with This Genotype
Genotype
MGI:3712071
Allelic
Composition
Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp2tm1(cre)Blyg mutation (0 available); any Aqp2 mutation (17 available)
phenotype observed in females
phenotype observed in males
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/body

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

integument
• mice have dry fur

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nephrogenic diabetes insipidus DOID:12387 J:121445


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory