Phenotypes associated with this allele

• Allele Symbol: Aqp2^tm1(cre)Blyg
• Allele Name: targeted mutation 1, Baoli Yang
• Allele ID: MGI:3711456
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aqp2^tm1(cre)Blyg/Aqp2^tm1(cre)Blyg	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3712071

Genotype
MGI:3712071

hm1

• Allelic Composition: Aqp2^tm1(cre)Blyg/Aqp2^tm1(cre)Blyg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:121445 )

• mice can survive to adulthood, but ~40% die around weaning

• at weaning, mice given single dose of sterile water show increased survival; all injected mice survive 6 months and beyond

growth/size/body

decreased body weight ( J:121445 )

behavior/neurological

polydipsia ( J:121445 )

• water consumption is 3-fold higher than controls

renal/urinary system

abnormal urine osmolality ( J:121445 )

• in response to desmopressin, mutants are resistant compared to wild-type mice which show a reduction in urine volume and increase in urine osmolality at 4 weeks

decreased urine osmolality ( J:121445 )

• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks

dilated kidney collecting duct ( J:121445 )

renal interstitial fibrosis ( J:121445 )

kidney papillary atrophy ( J:121445 )

• papilla displays atrophy at 4 weeks

hydronephrosis ( J:121445 )

• kidneys show enlargement due to hydronephrosis in 4 week-old mice

polyuria ( J:121445 )

• urine output in 12 hours is significantly increased relative to wild-type

• at 8 weeks of age, urine output is ~2 times that at of mice at 4 weeks of age, when normalized for body weight, but osmolality is relatively unchanged at the 2 timepoints

homeostasis/metabolism

increased blood urea nitrogen level ( J:121445 )

• BUN level is elevated significantly at 4 weeks relative to heterozygous or wild-type mice

dehydration ( J:121445 )

• likely cause of observed mortality

abnormal urine osmolality ( J:121445 )

• in response to desmopressin, mutants are resistant compared to wild-type mice which show a reduction in urine volume and increase in urine osmolality at 4 weeks

decreased urine osmolality ( J:121445 )

• osmolality is 193 mosmol/kg H2O vs 1093 in wild-type or 1275 mosmol/kg H20 in heterozygotes at 4 weeks

hematopoietic system

increased hematocrit ( J:121445 )

reproductive system

reproductive system phenotype ( J:121445 )

N • males and females are fertile

integument

abnormal coat appearance ( J:121445 )

• mice have dry fur

dry skin ( J:121445 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephrogenic diabetes insipidus		DOID:12387		J:121445