Phenotypes associated with this allele

• Allele Symbol: Agtpbp1^pcd-5J
• Allele Name: Purkinje cell degeneration 5 Jackson
• Allele ID: MGI:2388491
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Agtpbp1^pcd-5J/Agtpbp1^pcd-5J	involves: DBA/2J	MGI:2661436

Genotype
MGI:2661436

hm1

• Allelic Composition: Agtpbp1^pcd-5J/Agtpbp1^pcd-5J
• Genetic Background: involves: DBA/2J

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

Purkinje cell degeneration in Agtpbp1^pcd-5J/Agtpbp1^pcd-5J mice

behavior/neurological

ataxia ( J:83266 , J:105316 )

• homozygotes exhibit a visibly detectable ataxic gait by weaning age (J:83266)

• mutants display a subtle unsteadiness and impaired dexterity upon ambulation at P17-18 and are ataxic by P21, showing pronounced ataxia by one month of age that is moderately severe without further progression with age (J:105316)

nervous system

Purkinje cell degeneration ( J:83266 , J:105316 )

• detectable by histology (J:83266)

• 60-75% loss of Purkinje cells in the cerebellum at P25; ventral parts are relatively spared and cells are retained in the dorsal folia (J:105316)

• surviving Purkinje cells are degenerated with reduced dendritic arborization (J:105316)

small cerebellum ( J:105316 )

• smaller cerebella after 2 months of age

abnormal photoreceptor inner segment morphology ( J:105316 )

• thinning of the inner segment

abnormal photoreceptor outer segment morphology ( J:105316 )

• thinning of the outer segement

reproductive system

male infertility ( J:105316 )

♂

vision/eye

thin retina outer nuclear layer ( J:105316 )

• thinner by 6.5 months of age

abnormal retina photoreceptor layer morphology ( J:105316 )

• reduction in thickness of the photoreceptor layer in the retina at 5.5 months of age

abnormal photoreceptor inner segment morphology ( J:105316 )

• thinning of the inner segment

abnormal photoreceptor outer segment morphology ( J:105316 )

• thinning of the outer segement

retina degeneration ( J:105316 )

• retinal photoreceptor degeneration is seen by 5.5-6.5 months of age