All Phenotypes Sil1<wz> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Sil1^wz
woozy
MGI:3055918

Summary

2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sil1^wz/Sil1^wz	CXB5/ByJ-Sil1^wz	MGI:3640086
ht2	Sil1^{Gt(RST462)Byg}/Sil1^wz	involves: 129P2/OlaHsd * C57BL/6J * CXB5/ByJ	MGI:3640087

Allelic Composition	Sil1^wz/Sil1^wz
Genetic Background	CXB5/ByJ-Sil1^wz

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sil1^wz mutation (1 available); any Sil1 mutation (26 available)

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

mortality/aging

perinatal lethality ( J:100860 )

behavior/neurological

ataxia ( J:100860 )

• develop adult-onset ataxia

nervous system

abnormal Purkinje cell morphology ( J:100860 )

• degenerating Purkinje cells have condensed nuclear chromatin, multilamellar membranous structures with characteristics of autophagosomes or autophagic vacuoles, and intracellular protein accumulations in the ER and nucleus

Purkinje cell degeneration ( J:100860 )

• most Purkinje cells in cerebellar lobules degenerate by 4 months of age, however cells in lobule X and caudal lobule IX are present in mice at 1 year of age

• Purkinje cells exhibit upregulation of the unfolded protein response, suggestive of ER stress

Allelic Composition	Sil1^{Gt(RST462)Byg}/Sil1^wz
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J * CXB5/ByJ