Dtna^tm1Jrs
Targeted Allele Detail

Summary

• Symbol: Dtna^tm1Jrs
• Name: dystrobrevin alpha; targeted mutation 1, Joshua R Sanes
• MGI ID: MGI:2148537
• Synonyms: adbn -, alphaDB^-, alphaDbKO, dtna KO
• Gene: Dtna Location: Chr18:23548192-23792772 bp, + strand Genetic Position: Chr18, 12.08 cM
• Alliance: Dtna^tm1Jrs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:59675
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced a 2.5 kb segment containing exon 3. The deleted sequence corresponds to a region in the protein that is found in the isoforms alpha-DB-1 and alpha DB-2, the only isoforms known to be expressed in muscle. However, immunohistochemical analyses of skeletal muscle and brain did not detect any of the known alternatively spliced isoforms in homozygous mutant mice. (J:59675)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Dtna Mutation: 45 strains or lines available

References

• Original: J:59675 Grady RM, et al., Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nat Cell Biol. 1999 Aug;1(4):215-20
• All: 23 reference(s)