Phenotypes associated with this allele

• Allele Symbol: Agtpbp1^pcd-6J
• Allele Name: Purkinje cell degeneration 6 Jackson
• Allele ID: MGI:3521973
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Agtpbp1^pcd-6J/Agtpbp1^pcd-6J	C57BL/6J-Agtpbp1^pcd-6J/J	MGI:3521990
ht2	Agtpbp1^pcd-6J/Agtpbp1^+	C57BL/6J-Agtpbp1^pcd-6J/J	MGI:3521991

Genotype
MGI:3521990

hm1

• Allelic Composition: Agtpbp1^pcd-6J/Agtpbp1^pcd-6J
• Genetic Background: C57BL/6J-Agtpbp1^pcd-6J/J

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

behavior/neurological

ataxia ( J:87349 )

muscle

decreased skeletal muscle fiber size ( J:87349 )

• small muscle fibers

reproductive system

azoospermia ( J:87349 )

♂ • no sperm production was observed at 61 days of age

testicular atrophy ( J:87349 )

♂ • observed at 61 days of age

infertility ( J:87349 )

• animals were found to be non-productive

vision/eye

retina degeneration ( J:87349 )

• only seven layers of cells in the outer nuclear layer were observed

nervous system

abnormal olfactory bulb morphology ( J:87349 )

• loss of mitral cells in the olfactory bulb were noted in an older animal

Purkinje cell degeneration ( J:87349 )

• loss of Purkinje cells in the cerebellum

abnormal ventral spinal root morphology ( J:87349 )

• degeneration of the ventral root of the spinal cord was noted in an older animal

endocrine/exocrine glands

testicular atrophy ( J:87349 )

♂ • observed at 61 days of age

cellular

azoospermia ( J:87349 )

♂ • no sperm production was observed at 61 days of age

Genotype
MGI:3521991

ht2

• Allelic Composition: Agtpbp1^pcd-6J/Agtpbp1⁺
• Genetic Background: C57BL/6J-Agtpbp1^pcd-6J/J

reproductive system

reduced fertility ( J:87349 )

• heterozygotes eventually became non-productive at approximately 18 months of age