Phenotypes Associated with This Genotype

Genotype
MGI:2175713

• Allelic Composition: Avpr2^tm1Jwe/Y
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CF-1

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

Pelvic space of Avpr2^tm1Jwe/Y pups is enlarged in kidneys

mortality/aging

postnatal lethality, complete penetrance ( J:66094 )

♂ • death within the first week after birth

growth/size/body

decreased body weight ( J:66094 )

♂ • 3 day old pups had a 30% decrease in body weight

hematopoietic system

increased hematocrit ( J:66094 )

♂ • increased 15-20%

homeostasis/metabolism

hypoglycemia ( J:66094 )

♂ • blood glucose levels were 50% lower than controls

increased circulating sodium level ( J:66094 )

♂ • hypernatremia, increased serum Na+

increased circulating chloride level ( J:66094 )

♂ • increased serum Cl-

decreased urine osmolality ( J:66094 )

♂ • 3 day old pups had a 30% reduction in urine osmolarity

renal/urinary system

decreased urine osmolality ( J:66094 )

♂ • 3 day old pups had a 30% reduction in urine osmolarity

hydronephrosis ( J:66094 )

♂ • dilated renal pelvic space

integument

dry skin ( J:66094 )

♂ • dry skin, consistent with symptoms of dehydration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephrogenic diabetes insipidus		DOID:12387		J:66094