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Phenotypes Associated with This Genotype
Genotype
MGI:4367783
Allelic
Composition
Ahi1tm1Jgg/Ahi1tm1Jgg
Tg(TCF/Lef1-lacZ)34Efu/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1tm1Jgg mutation (1 available); any Ahi1 mutation (55 available)
Tg(TCF/Lef1-lacZ)34Efu mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 80% of mice fail to survive to adulthood

renal/urinary system
• 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
• 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
• by 5 months
• by 5 months
• by 5 months
• 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
• by 5 months
• at 21 months, mice exhibit defective urine-concentrating ability compared to in wild-type mice

homeostasis/metabolism
• moderately at 21 months
• 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
• by 5 months

growth/size/body
• 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

cellular
• in kidneys at 5 months

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory