Phenotypes Associated with This Genotype

Genotype
MGI:4367783

• Allelic Composition: Ahi1^tm1Jgg/Ahi1^tm1Jgg; Tg(TCF/Lef1-lacZ)34Efu/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

premature death ( J:154321 )

• 80% of mice fail to survive to adulthood

renal/urinary system

abnormal kidney morphology ( J:154321 )

• by 5 months, kidneys exhibit characteristics of nephronophthisis with abnormal tubular basement membrane including thickening and disintegration with tubular collapse, interstitial cell infiltration and fibrosis, and multiple microcysts and tubular dilation unlike in wild-type mice

• the cortico-medullary region is most affected

• however, kidney ciliogenesis is normal

kidney cyst ( J:154321 )

• by 5 months, mice exhibit microcysts unlike wild-type mice

• in mice older than 1 year of age, the average cyst area as a ration of total kidney area is increased compared to in younger mice

small kidney ( J:154321 )

• by 5 months

dilated renal tubule ( J:154321 )

• by 5 months

renal fibrosis ( J:154321 )

• by 5 months

abnormal kidney physiology ( J:154321 )

• mice subjected to renal ischemia and reperfusion or cisplatin treatment exhibit defective recovery with increased cysts compared with similarly treated wild-type mice

• however, susceptibility to renal ischemia/reperfusion injury is normal

kidney inflammation ( J:154321 )

• by 5 months

isosthenuria ( J:154321 )

• at 21 months, mice exhibit defective urine-concentrating ability compared to in wild-type mice

homeostasis/metabolism

increased circulating creatinine level ( J:154321 )

• moderately at 21 months

decreased circulating serum albumin level ( J:154321 )

• at 21 months

abnormal response to injury ( J:154321 )

• mice subjected to renal ischemia and reperfusion or cisplatin treatment exhibit defective recovery compared with similarly treated wild-type mice

• however, susceptibility to renal ischemia/reperfusion- or cisplatin-induced injury is normal

immune system

kidney inflammation ( J:154321 )

• by 5 months

growth/size/body

kidney cyst ( J:154321 )

• by 5 months, mice exhibit microcysts unlike wild-type mice

• in mice older than 1 year of age, the average cyst area as a ration of total kidney area is increased compared to in younger mice

decreased body size ( J:154321 )

cellular

abnormal basement membrane morphology ( J:154321 )

• in kidneys at 5 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephronophthisis		DOID:12712	OMIM:PS256100	J:154321