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Allele : Agtpbp1<pcd-2J> ATP/GTP binding protein 1; Purkinje cell degeneration 2 Jackson

Primary Identifier  MGI:1856536 Allele Type  Spontaneous
Gene  Agtpbp1 Inheritance Mode  Recessive
Strain of Origin  SM/J Is Recombinase  false
Is Wild Type  false
molecularNote  The sequence defect underlying this mutant phenotype was identified a 7.8 kb insertion into intron 13 of the gene. The insertion contains repetitive elements similar to the T cell receptor locus. Northern analysis from cerebellum, heart and brain failed to detect any transcript using a probe from exons 16-19. However, transcript was detected in testis at reduced levels.
  • mutations:
  • Insertion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories

Trail: Allele