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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Prnp-ATXN7*92Q)6076Als
transgene insertion 6076, Albert R La Spada
MGI:2183508
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
tg1
Tg(Prnp-ATXN7*92Q)6076Als/0 involves: C3H/HeJ * C57BL/6 MGI:3712499


Genotype
MGI:3712499
tg1
Allelic
Composition
Tg(Prnp-ATXN7*92Q)6076Als/0
Genetic
Background
involves: C3H/HeJ * C57BL/6
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
mortality/aging
• death between 13 and 34 weeks in most affected mice (J:77530)
• death between 13 and 34 weeks in most affected mice (J:77530)

growth/size/body
• most affected mice are smaller as ataxia progresses (J:77530)
• most affected mice are smaller as ataxia progresses (J:77530)

vision/eye
• retinas show increased numbers of apoptotic photoreceptor cells (J:71971)
• retinas show increased numbers of apoptotic photoreceptor cells (J:71971)
• loss of cone photoreceptors (J:71971)
• loss of cone photoreceptors (J:71971)
• photoreceptor cell degeneration: cone-rod dystrophy type of retinal degeneration (J:71971)
• photoreceptor cell degeneration: cone-rod dystrophy type of retinal degeneration (J:71971)
• mutants exhibit progressive thinning of the outer nuclear layer starting at 12 weeks of age, with some regions narrowing to as few as six nuclei across (J:71971)
• mutants exhibit progressive thinning of the outer nuclear layer starting at 12 weeks of age, with some regions narrowing to as few as six nuclei across (J:71971)
• cone-initiated responses are degraded faster than rod-driven responses (J:71971)
• mildly affected mutants show a reduction in cone-initiated responses while maintaining normal rod responses (J:71971)
• moderately affected mutants show a further reduction in cone-initiated and ultimately show an absence of both the cone and rod responses to the brightest light flash (J:71971)
• cone-initiated responses are degraded faster than rod-driven responses (J:71971)
• mildly affected mutants show a reduction in cone-initiated responses while maintaining normal rod responses (J:71971)
• moderately affected mutants show a further reduction in cone-initiated and ultimately show an absence of both the cone and rod responses to the brightest light flash (J:71971)
• moderately affected mutants show a slight reduction in rod-initiated responses and ultimately show an absence of both the cone and rod responses to the brightest light flash (J:71971)
• moderately affected mutants show a slight reduction in rod-initiated responses and ultimately show an absence of both the cone and rod responses to the brightest light flash (J:71971)
• age of blindness onset is 13 weeks of age (J:71971)
• age of blindness onset is 13 weeks of age (J:71971)

nervous system
• Purkinje cells are flattened and exhibit less dendritic arborization, and nuclei have occasional invaginations and appear granular (J:77530)
• however, no significant neuronal loss is observed (J:77530)
• Purkinje cells are flattened and exhibit less dendritic arborization, and nuclei have occasional invaginations and appear granular (J:77530)
• however, no significant neuronal loss is observed (J:77530)
• severe Purkinje cell degeneration (smaller and shrunken) at 20 weeks of age, despite the absence of expression of the polyglutamine-expanded SCA7 in Purkinje cells (J:77530)
• severe Purkinje cell degeneration (smaller and shrunken) at 20 weeks of age, despite the absence of expression of the polyglutamine-expanded SCA7 in Purkinje cells (J:77530)
• retinas show increased numbers of apoptotic photoreceptor cells (J:71971)
• retinas show increased numbers of apoptotic photoreceptor cells (J:71971)
• loss of cone photoreceptors (J:71971)
• loss of cone photoreceptors (J:71971)
• photoreceptor cell degeneration: cone-rod dystrophy type of retinal degeneration (J:71971)
• photoreceptor cell degeneration: cone-rod dystrophy type of retinal degeneration (J:71971)

behavior/neurological
• mutants become less explorative (J:77530)
• mutants become less explorative (J:77530)
• mutants startle easily (J:77530)
• mutants startle easily (J:77530)
• 50% of 12 week old mutants are claspers in the clasping test (J:77530)
• 50% of 12 week old mutants are claspers in the clasping test (J:77530)
• mutants eventually develop a chronic whole-body tremor (J:77530)
• mutants eventually develop a chronic whole-body tremor (J:77530)
• 50% of 12 week old mutants fail in a ledge test (J:77530)
• 50% of 12 week old mutants fail in a ledge test (J:77530)
• impairment in rotarod function by 8 weeks of age which worsens over time (J:77530)
• impairment in rotarod function by 8 weeks of age which worsens over time (J:77530)
• unsteady gait progresses to a wide-based stride with occasional falling (J:77530)
• unsteady gait progresses to a wide-based stride with occasional falling (J:77530)
• 50% of 12 week old mutants are inactive (J:77530)
• 50% of 12 week old mutants are inactive (J:77530)
• an unsteady gait develops beginning at 8-15 weeks of age (J:77530)
• an unsteady gait develops beginning at 8-15 weeks of age (J:77530)

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinocerebellar Ataxia 7; SCA7 164500 J:71971 , J:77530





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory