Phenotypes Associated with This Genotype

Genotype
MGI:5705127

• Allelic Composition: Tg(Prnp-ATXN7*92Q)1963Als/0
• Genetic Background: B6J.Cg-Tg(Prnp-ATXN7*92Q)1963Als

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

behavior/neurological

limb grasping ( J:222402 )

impaired coordination ( J:222402 )

• mice show a shorter latency to fall on an accelerating rotarod at 14 weeks of age, but not at 8 weeks

• mice exhibit impairment in the ledge test at 8 and 14 weeks of age

mortality/aging

premature death ( J:222402 )

• average lifespan is 17.1 weeks

nervous system

abnormal Purkinje cell dendrite morphology ( J:222402 )

• modest decrease in Purkinje cell neuron dendritic arborization in the cerebellar molecular layer at 24 weeks of age

decreased retina photoreceptor cell number ( J:222402 )

retina cone cell degeneration ( J:222402 )

• 24 week old mice exhibit loss of cone photoreceptor cells

abnormal synaptic physiology ( J:222402 )

• decrease in glutamate uptake in cerebellar synaptosome preparations

skeleton

kyphosis ( J:222402 )

vision/eye

decreased retina photoreceptor cell number ( J:222402 )

retina cone cell degeneration ( J:222402 )

• 24 week old mice exhibit loss of cone photoreceptor cells

thin retina outer nuclear layer ( J:222402 )

• outer nuclear layer thinning at 24 weeks of age

abnormal electroretinogram waveform feature ( J:222402 )

• ERG at 22 weeks of age indicates an impaired rod photoreceptor depolarization response with retinas showing reduced amplitude responses to 10 dB flashes of white light after dark adaptation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:222402