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Allele : Dmd<mdx-3Cv> dystrophin, muscular dystrophy; X linked muscular dystrophy 3, Verne Chapman

Primary Identifier  MGI:1856330 Allele Type  Chemically induced (ENU)
Attribute String  Hypomorph Gene  Dmd
Inheritance Mode  Recessive Strain of Origin  C3Ha.Cg-Hpr1t<a> Pgk1<a>
Is Recombinase  false Is Wild Type  false
molecularNote  A T to A transversion creates a novel splice acceptor site 14 bp upstream of the natural site in exon 66. Splicing at this mutant site results in the inclusion of 14 bp of intronic sequence and shifts the reading frame of the encoded mRNA. While a low level of a smaller transcript is expressed from this allele, western blot analysis failed to detect any isoform of protein in various tissues from homozygous mutant mice (J:12150). However, a second report shows that the transcript generated by skipping exons 65 and 66 (D65/66) generates an in-frame transcript that produces low levels of dystrophin (J:250658).
  • mutations:
  • Single point mutation
  • synonyms:
  • mdx3cv,
  • mdx<3cv>,
  • mdx<cv3>,
  • mdx3<cv>,
  • mdx3cv,
  • mdx3<cv>,
  • mdx<3cv>,
  • mdx<cv3>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

0 Driven By

36 Publication categories