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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 (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice can survive to adulthood, but ~40% die around weaning (J:121445)
• at weaning, mice given single dose of sterile water show increased survival; all injected mice survive 6 months and beyond (J:121445)
• mice can survive to adulthood, but ~40% die around weaning (J:121445)
• at weaning, mice given single dose of sterile water show increased survival; all injected mice survive 6 months and beyond (J:121445)

growth/size/body

behavior/neurological
• water consumption is 3-fold higher than controls (J:121445)
• water consumption is 3-fold higher than controls (J:121445)

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 (J:121445)
• 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 (J:121445)
• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks (J:121445)
• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks (J:121445)
• papilla displays atrophy at 4 weeks (J:121445)
• papilla displays atrophy at 4 weeks (J:121445)
• kidneys show enlargement due to hydronephrosis in 4 week-old mice (J:121445)
• kidneys show enlargement due to hydronephrosis in 4 week-old mice (J:121445)
• urine output in 12 hours is significantly increased relative to wild-type (J:121445)
• 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 (J:121445)
• urine output in 12 hours is significantly increased relative to wild-type (J:121445)
• 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 (J:121445)

homeostasis/metabolism
• BUN level is elevated significantly at 4 weeks relative to heterozygous or wild-type mice (J:121445)
• BUN level is elevated significantly at 4 weeks relative to heterozygous or wild-type mice (J:121445)
• likely cause of observed mortality (J:121445)
• likely cause of observed mortality (J:121445)
• 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 (J:121445)
• 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 (J:121445)
• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks (J:121445)
• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks (J:121445)

hematopoietic system

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

integument
• mice have dry fur (J:121445)
• mice have dry fur (J:121445)

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


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory