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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahi1tm1Jgg mutation (1 available); any Ahi1 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• early postnatal lethality which is not rescued by lithium treatment

• runting which is not rescued by lithium treatment

nervous system
• 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
• overall brain size reduced 17%
• separated at the midline at E12.5
• lengthened roof plate at E12.5 and ider at E13.5
• decreased proliferation of granule neurons at E16.5 but recovering at E18.5
• partially rescued by lithium treatment
• 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
• cerebellum small and hypoplastic
• partially rescued by lithium treatment

Mouse Models of Human Disease
OMIM ID Ref(s)
Joubert Syndrome 3; JBTS3 608629 J:172420

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory