Phenotypes associated with this allele

• Allele Symbol: Ric8a^tm1.1Zhua
• Allele Name: targeted mutation 1.1, Zhen Zhuang
• Allele ID: MGI:5467414
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ric8a^tm1Aks/Ric8a^tm1.1Zhua Tg(Atoh1-cre/Esr1*)14Fsh/0	involves: 129P2/OlaHsd * FVB/N	MGI:5467517
cn2	Ric8a^tm1.1Zhua/Ric8a^tm1.1Zhua Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5467518
cn3	Ric8a^tm1.1Zhua/Ric8a^tm1.1Zhua Tg(GFAP-cre)25Mes/0	involves: FVB/N	MGI:5467513

Genotype
MGI:5467517

cn1

• Allelic Composition: Ric8a^tm1Aks/Ric8a^tm1.1Zhua; Tg(Atoh1-cre/Esr1*)14Fsh/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

nervous system

nervous system phenotype ( J:191222 )

N • granule cell precursors are normal in tamoxifen-treated mice

Genotype
MGI:5467518

cn2

• Allelic Composition: Ric8a^tm1.1Zhua/Ric8a^tm1.1Zhua; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:191222 )

nervous system

abnormal cerebellum development ( J:191222 )

• however, granule cell precursor proliferation is normal

abnormal cerebellar foliation ( J:191222 )

• as in Ric8^tm1Zhua/Ric8^tm1Zhua Tg(GFAP-cre)25Mes mice

abnormal Bergmann glial cell morphology ( J:191222 )

• between E17.0 and E17.5, the interaction between Bergmann glia and basement membrane is disrupted

abnormal cerebellum lobule morphology ( J:191222 )

• no basement membrane separates neighboring lobules in the cerebellum and remains on the surface

cellular

abnormal basement membrane morphology ( J:191222 )

• no basement membrane separates neighboring lobules in the cerebellum and remains on the surface

Genotype
MGI:5467513

cn3

• Allelic Composition: Ric8a^tm1.1Zhua/Ric8a^tm1.1Zhua; Tg(GFAP-cre)25Mes/0
• Genetic Background: involves: FVB/N

nervous system

abnormal cerebellar granule cell migration ( J:191222 )

• impaired migration from the external to internal granule layer

abnormal cerebellum morphology ( J:191222 )

• severely disorganized

abnormal cerebellum development ( J:191222 )

• no basement membrane separates neighboring lobules in the cerebellum and remains on the surface

• however, granule cell precursors are normal

abnormal cerebellar foliation ( J:191222 )

• no basement membrane separates neighboring lobules

• however, folial pattern is more or less normal

abnormal Bergmann glial cell morphology ( J:191222 )

• Bergmann glial scaffolds surrounding he primary and secondary fissures are severely disorganized

• the Bergmann glial scaffolds surrounding other fissures is severely reduced in fiber density compared to in wild-type mice

• severely reduced Bergmann glia-basement membrane interaction compared to in wild-type mice

• however, the Bergmann glial scaffolds surrounding other fissures is still associated with basement membrane

ectopic Purkinje cell ( J:191222 )

• scattered over a wide area in the cerebellum and frequently intermingled with ectopic granule cells

• most obvious in lobules surrounding the primary and secondary fissures

ectopic cerebellar granule cells ( J:191222 )

• throughout the molecular layer and external granule layer (EGL) surrounding the primary and secondary fissures

• in the EGL, but not the molecular layer, surrounding other lobules

absent cerebellum fissure ( J:191222 )

• primary and secondary fissures

abnormal cerebellum lobule morphology ( J:191222 )

• no basement membrane separates neighboring lobules

• however, folial pattern is more or less normal

enlarged cerebellum ( J:191222 )

• expanded volume from P0 to P4

behavior/neurological

ataxia ( J:191222 )

cellular

abnormal cerebellar granule cell migration ( J:191222 )

• impaired migration from the external to internal granule layer

abnormal basement membrane morphology ( J:191222 )

• no basement membrane separates neighboring lobules in the cerebellum and remains on the surface