Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1tm1Jgg mutation
(1 available);
any
Ahi1 mutation
(80 available)
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mortality/aging
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• mice die between birth and P10
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vision/eye
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N |
• photoreceptor ciliary axonemes are normal
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• outer segments fail to form unlike in wild-type mice
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• at 1 month, mice exhibit rapid loss of outer nuclear (photoreceptor) layer unlike wild-type mice
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growth/size/body
nervous system
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• outer segments fail to form unlike in wild-type mice
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• at 1 month, mice exhibit rapid loss of outer nuclear (photoreceptor) layer unlike wild-type mice
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cellular
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1tm1Jgg mutation
(1 available);
any
Ahi1 mutation
(80 available)
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mortality/aging
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• early postnatal lethality which is not rescued by lithium treatment
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growth/size/body
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• runting which is not rescued by lithium treatment
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nervous system
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• foliation defect in lobules V, VI, VII
• decrease of 1.5 folia on average
• persists beyond 3 weeks
• foliation defect at 5 days of age
• partially rescued by lithium treatment
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• overall brain size reduced 17%
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• separated at the midline at E12.5
• lengthened roof plate at E12.5 and ider at E13.5
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• decreased proliferation of granule neurons at E16.5 but recovering at E18.5
• partially rescued by lithium treatment
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• size of the vermis is reduced 40%
• small vermis detectable at 4 days of age
• midline fusion defect at E16.5
• vermis is thinner and malformed
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• cerebellum small and hypoplastic
• partially rescued by lithium treatment
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mortality/aging
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N |
• mice exhibit normal mortality through weaning
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vision/eye
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• at P19, dark-adapted electrical activity is absent unlike in wild-type mice
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nervous system
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N |
• brain morphology is normal
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vision/eye
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• outer segments fail to form unlike in wild-type mice
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• photoreceptor loss is delayed compared to in Ahi1tm1Jgg homozygotes
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nervous system
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• outer segments fail to form unlike in wild-type mice
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• photoreceptor loss is delayed compared to in Ahi1tm1Jgg homozygotes
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renal/urinary system
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• tubule abnormalities are consistent with nephronophthisis
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homeostasis/metabolism
growth/size/body
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1tm1Jgg mutation
(1 available);
any
Ahi1 mutation
(80 available)
Tg(TCF/Lef1-lacZ)34Efu mutation
(2 available)
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mortality/aging
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• 80% of mice fail to survive to adulthood
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renal/urinary system
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• 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
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• 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
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• 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
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• at 21 months, mice exhibit defective urine-concentrating ability compared to in wild-type mice
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homeostasis/metabolism
immune system
growth/size/body
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• 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
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cellular
Analysis Tools