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Dmdtm1.1Know
Targeted Allele Detail
Summary
Symbol: Dmdtm1.1Know
Name: dystrophin, muscular dystrophy; targeted mutation 1.1, Kirk Knowlton
MGI ID: MGI:5569634
Synonyms: DysKI
Gene: Dmd  Location: ChrX:81992476-84249747 bp, + strand  Genetic Position: ChrX, 38.38 cM, cytoband C
Alliance: Dmdtm1.1Know page
Decreased susceptibility to coxsackievirus B3 viral infection of the heart in Dmdtm1.1Know/Dmdtm1.1Know mice

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:207775
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsTwo point mutations in exon 50 result in the amino acid substitution of proline for lysine at position 2425 (L2425P) and aspartic acid for serine at position 2426 (S2426D). This mutations prevent cleavage by protease 2A. Cre-mediated recombination removed the floxed neomycin resistance cassette. (J:207775)
Generation of the Dmdtm1.1Know allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Dmd Mutation:  154 strains or lines available
References
Original:  J:207775 Lim BK, et al., Inhibition of Coxsackievirus-associated dystrophin cleavage prevents cardiomyopathy. J Clin Invest. 2013 Dec 2;123(12):5146-51
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory