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Dag1tm4.1Kcam
Targeted Allele Detail
Nomenclature
Symbol: Dag1tm4.1Kcam
Name: dystroglycan 1; targeted mutation 4.1, Kevin P Campbell
MGI ID: MGI:4940531
Synonyms: Dag1T190M
Gene: Dag1  Location: Chr9:108204634-108263958 bp, - strand  Genetic Position: Chr9, 59.08 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:169291
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA nucleotide substitutions in exon 3 resulted in the amino acid substitution of methionine for threonine at position 190 (T190M). This mutation corresponds to the T192M mutation identified in humans with Limb-Girdle Muscular Dystrophy. A floxed neo cassette was inserted upstream of exon 3 and was removed by cre mediated recombination. (J:169291)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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 Dag1 Mutation:  94 strains or lines available
References
Original:  J:169291 Hara Y, et al., A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy. N Engl J Med. 2011 Mar 10;364(10):939-946
All:  2 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
05/15/2018
MGI 6.12
The Jackson Laboratory