Phenotypes Associated with This Genotype

Genotype
MGI:3688527

• Allelic Composition: Aqp2^tm1(AQP2)Suc/Aqp2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

weight loss ( J:113716 )

• after dehydration, greater weight loss is seen in mutants (24.2%) than in mutants (13.9%)

homeostasis/metabolism

decreased urine osmolality ( J:113716 )

• before and after 24-hour water-deprivation period, osmolality of urine is reduced compared to wild-type (240 vs 2407 mOsm/kg H20 before deprivation, 1120 vs 3760 mOsm/kg H20 after deprivation)

• maximal osmolality after vasopressin injection is reduced compared to wild-type (644 vs 2938 mOsm/kg H20)

renal/urinary system

decreased urine osmolality ( J:113716 )

• before and after 24-hour water-deprivation period, osmolality of urine is reduced compared to wild-type (240 vs 2407 mOsm/kg H20 before deprivation, 1120 vs 3760 mOsm/kg H20 after deprivation)

• maximal osmolality after vasopressin injection is reduced compared to wild-type (644 vs 2938 mOsm/kg H20)

polyuria ( J:113716 )

• urine volume is significantly increased compared to wild-type (5.5 ml/day vs 0.6 ml/day in wild-type)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephrogenic diabetes insipidus		DOID:12387		J:113716