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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 (11 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
DO ID OMIM ID(s) Ref(s)
nephrogenic diabetes insipidus DOID:12387 OMIM:125800
OMIM:304800
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
09/12/2017
MGI 6.10
The Jackson Laboratory