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Phenotypes Associated with This Genotype
Genotype
MGI:3616879
Allelic
Composition
Aqp2F204V/Aqp2F204V
Genetic
Background
C57BL/6-Aqp2F204V
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aqp2F204V mutation (1 available); any Aqp2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Severe hydronephrosis and dilatation of the renal pelvis with blunting of the papilla in Aqp2F204V/Aqp2F204V mice

mortality/aging
N
• mutants appear to have normal lifespans, unlike Aqp2 null mice

homeostasis/metabolism
• mice produce very dilute urine; concentration is approximately 161 mOsm compared to about 1,293 mOsm in wild-type

behavior/neurological
• water consumption is dramatically higher than in heterozygotes or wild-type

renal/urinary system
• mice produce very dilute urine; concentration is approximately 161 mOsm compared to about 1,293 mOsm in wild-type
• mice exhibit severe hydronephrosis that is detectable at 4 weeks of age and worsens with age
• ureter morphology is normal despite dilation of the renal pelvis
• treatment with 1-deamino-8-D-arginine vasopressin produces a proportionally smaller increase in urine osmolarity compared to wild-type
• mice have dramatically increased urine output, producing more than their body weight in urine in 24 hours

Mouse Models of Human Disease
OMIM ID Ref(s)
Diabetes Insipidus, Nephrogenic, Autosomal 125800 J:105809


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory