Dmd^mdx-3Cv

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Species

Mus musculus

Symbol

Dmd^mdx-3Cv

Category

allele

Allele of gene

Dmd

Transgenic Constructs

None

Synonyms

• mdx^3cv
• mdx^cv3

Show All 4

Description

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).

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations