Phenotypes Associated with This Genotype

Genotype
MGI:5007765

• Allelic Composition: Ahi1^tm1Jgg/Ahi1^tm1Jgg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:172420 )

• early postnatal lethality which is not rescued by lithium treatment

growth/size/body

decreased body size ( J:172420 )

• runting which is not rescued by lithium treatment

nervous system

reduced cerebellar foliation ( J:172420 )

• 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

decreased brain size ( J:172420 )

• overall brain size reduced 17%

abnormal cerebellar hemisphere morphology ( J:172420 )

• separated at the midline at E12.5

• lengthened roof plate at E12.5 and ider at E13.5

abnormal cerebellar granule layer morphology ( J:172420 )

• decreased proliferation of granule neurons at E16.5 but recovering at E18.5

• partially rescued by lithium treatment

abnormal cerebellum vermis morphology ( J:172420 )

• 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 hypoplasia ( J:172420 )

• cerebellum small and hypoplastic

• partially rescued by lithium treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Joubert syndrome 3		DOID:0110998	OMIM:608629	J:172420