Mouse Genome Informatics
hm
    Ahi1tm1Jgg/Ahi1tm1Jgg
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• early postnatal lethality which is not rescued by lithium treatment

growth/size
• 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 IDRef(s)
Joubert Syndrome 3; JBTS3 608629 J:172420