Mouse Genome Informatics
hm
    Aqp2F204V/Aqp2F204V
C57BL/6-Aqp2F204V
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Kidney and histological kidney sections of an Aqp2F204V/Aqp2F204V mouse.

mortality/aging
N
• mutants appear to have normal lifespans, unlike Aqp2 null mice (J:105809)

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 IDRef(s)
Diabetes Insipidus, Nephrogenic, Autosomal 125800 J:105809