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Dmdmdx-5Cv
Chemically induced Allele Detail
Nomenclature
Symbol: Dmdmdx-5Cv
Name: dystrophin, muscular dystrophy; X linked muscular dystrophy 5, Verne Chapman
MGI ID: MGI:1856332
Synonyms: mdx5cv, mdx5cv, mdxCv5
Gene: Dmd  Location: ChrX:82948870-85206141 bp, + strand  Genetic Position: ChrX, 38.38 cM, cytoband C
Mutation
origin
Strain of Origin:  C3Ha.Cg-Hprta Pgk1a
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsAn A to T transversion at position 1324 in exon 10 creates a new splice donor site in the middle of exon 10. Aberrant splicing from the mutant site to exon 11 creates a 53 bp frameshifting deletion in the encoded mRNA. (J:34517)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dmd Mutation:  127 strains or lines available
References
Original:  J:9638 Chapman VM, et al., Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. Proc Natl Acad Sci U S A. 1989 Feb;86(4):1292-6
All:  24 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory