Phenotypes Associated with This Genotype

Genotype
MGI:3616879

• Allelic Composition: Aqp2^F204V/Aqp2^F204V
• Genetic Background: C57BL/6-Aqp2^F204V

• ♀: 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 Aqp2^F204V/Aqp2^F204V mice

mortality/aging

mortality/aging ( J:105809 )

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

homeostasis/metabolism

decreased urine osmolality ( J:105809 )

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

behavior/neurological

polydipsia ( J:105809 )

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

renal/urinary system

decreased urine osmolality ( J:105809 )

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

hydronephrosis ( J:105809 )

• 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

abnormal kidney physiology ( J:105809 )

• treatment with 1-deamino-8-D-arginine vasopressin produces a proportionally smaller increase in urine osmolarity compared to wild-type

polyuria ( J:105809 )

• 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		J:105809