Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Dag1tm4.1Kcam
Name:	dystroglycan 1; targeted mutation 4.1, Kevin P Campbell
MGI ID:	MGI:4940531
Synonyms:	Dag1T190M
Gene:	Dag1  Location: Chr9:108082060-108141176 bp, - strand  Genetic Position: Chr9, 59.08 cM
Alliance:	Dag1tm4.1Kcam page

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+

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Nucleotide substitutions   Mutation details: A 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	109 strains or lines available

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)