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Allele : Dmd<mdx> dystrophin, muscular dystrophy; X linked muscular dystrophy

Primary Identifier  MGI:1856328 Allele Type  Spontaneous
Gene  Dmd Inheritance Mode  Recessive
Strain of Origin  C57BL/10ScSn Is Recombinase  false
Is Wild Type  false
molecularNote  This mutation arose in 1981 in a C57BL/10ScSn colony at University of Leicester. A C-to-T substitution in the CAA codon in exon 23 (ENSMUST00000114000 chrX:g.83803333C>T; c.2983C>T; p.Q995*) results in a termination codon (TAA) in place of a glutamine codon. This allele is predicted to produce a truncated protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • pyruvate kinase expression,
  • pyruvate kinase expression,
  • mdx,
  • pke,
  • pke,
  • mdx
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

49 Carried By

0 Driven By

1000 Publication categories