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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Pcp2-ATXN1*82Q)5Horr
transgene insertion 5, Harry T Orr
MGI:2447854
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Atxn1tm2Hzo/Atxn1tm2Hzo
Tg(Pcp2-ATXN1*82Q)5Horr/0
involves: 129S7/SvEvBrd * FVB/N MGI:3850989
tg2
Tg(Pcp2-ATXN1*82Q)5Horr/Tg(Pcp2-ATXN1*82Q)5Horr involves: FVB/N MGI:5518623
tg3
Tg(Pcp2-ATXN1*82Q)5Horr/0 involves: FVB/N MGI:5518618


Genotype
MGI:3850989
cx1
Allelic
Composition
Atxn1tm2Hzo/Atxn1tm2Hzo
Tg(Pcp2-ATXN1*82Q)5Horr/0
Genetic
Background
involves: 129S7/SvEvBrd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1tm2Hzo mutation (1 available); any Atxn1 mutation (50 available)
Tg(Pcp2-ATXN1*82Q)5Horr mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• at 18 weeks

nervous system




Genotype
MGI:5518623
tg2
Allelic
Composition
Tg(Pcp2-ATXN1*82Q)5Horr/Tg(Pcp2-ATXN1*82Q)5Horr
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological

nervous system
• Bergmann glial proliferation
• occasionally Purkinje cells have large clear vacuoles within their cytoplasm
• significant loss of the Purkinje cell population
• the dendritic arrays are abnormal
• numerous ectopic Purkinje cells are present in the molecular layer and occasionally in the granular layer
• shrinkage and gliosis of the molecular layer
• gliosis in the molecular layer




Genotype
MGI:5518618
tg3
Allelic
Composition
Tg(Pcp2-ATXN1*82Q)5Horr/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• develop ataxia by 12 weeks of age (J:28932)
• mice show a gentle swaying of the head while walking and early signs of general incoordination in the first 8-10 weeks of life, which progresses to ataxia (J:28932)
• mutants are impaired on the accelerating rotarod at 6 and 12 weeks of age and by 30 weeks of age, are unable to perform the test (J:166951)
• wider hind stance that controls
• slight reduction in cage activity

nervous system
• cerebellar abnormalities
• year old mutants show severe atrophy and loss of Purkinje cells
• atrophy of the finer dendritic branches of Purkinje cells
• reduction in molecular layer thickness
• mean relative height of climbing fiber terminals among Purkinje cell dendrites is reduced compared to wild-type mice, indicating compromised extension of climbing fiber terminals on Purkinje cells dendrites into the molecular layer

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spinocerebellar ataxia type 1 DOID:0050954 OMIM:164400
J:166951





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory