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Allele : Agtpbp1<pcd-5J> ATP/GTP binding protein 1; Purkinje cell degeneration 5 Jackson

Primary Identifier  MGI:2388491 Allele Type  Spontaneous
Gene  Agtpbp1 Inheritance Mode  Recessive
Strain of Origin  DBA/2J Is Recombinase  false
Is Wild Type  false
description  This mouse mutant was shown to be an allele of pcd through complementation testing with Agtpbp1pcd-3J.
molecularNote  A GAC was inserted at amino acid 775, adding an additional aspartic acid to the protein. Northern blot demonstrated comparable expression to that of wild-type mice, indicating normal RNA expression. However, Western blot analysis showed that protein level is dramatically reduced.
  • mutations:
  • Insertion
  • synonyms:
  • Nna1<pcd-5J>,
  • Nna1<pcd-5J>,
  • pcd<5J>,
  • pcd<5J>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

9 Publication categories

Trail: Allele