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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Agtpbp1pcd-Btlr
Purkinje cell degeneration Bruce Beutler
MGI:3774134
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Agtpbp1pcd-Btlr/Agtpbp1pcd-Btlr C57BL/6J-Agtpbp1pcd-Btlr MGI:3784975


Genotype
MGI:3784975
hm1
Allelic
Composition
Agtpbp1pcd-Btlr/Agtpbp1pcd-Btlr
Genetic
Background
C57BL/6J-Agtpbp1pcd-Btlr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Agtpbp1pcd-Btlr mutation (0 available); any Agtpbp1 mutation (66 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• homozygous males have reduced numbers of sperm cells
• sperm cells of male homozygotes are abnormally shaped
• male mice homozygous for this mutation are sterile

nervous system
N
• homozygous drunk and wild-type mice recover at the same rate following sciatic nerve crush injury
• degeneration of cerebellar Purkinje cells of homozygous mutant mice is first observable when the mice are approximately 3 weeks of age and progresses rapidly until virtually all cells are lost by 7 weeks
• degeneration of photoreceptor cells of homozygous mutants begins at about 6 weeks of age

behavior/neurological
• homozygous drunk mice exhibit severe ataxia of gait

vision/eye
• degeneration of photoreceptor cells of homozygous mutants begins at about 6 weeks of age

cellular
• homozygous males have reduced numbers of sperm cells
• sperm cells of male homozygotes are abnormally shaped





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory