Dag1^tm4.1Kcam
Targeted Allele Detail

Summary

• Symbol: Dag1^tm4.1Kcam
• Name: dystroglycan 1; targeted mutation 4.1, Kevin P Campbell
• MGI ID: MGI:4940531
• Synonyms: Dag1^T190M
• Gene: Dag1 Location: Chr9:108082060-108141176 bp, - strand Genetic Position: Chr9, 59.08 cM
• Alliance: Dag1^tm4.1Kcam page

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 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 109 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: 3 reference(s)