Dmd^tm1Ndl
Targeted Allele Detail

Summary

• Symbol: Dmd^tm1Ndl
• Name: dystrophin, muscular dystrophy; targeted mutation 1, Uri Nudel
• MGI ID: MGI:2148260
• Synonyms: Dp71^-, Dp71-null
• Gene: Dmd Location: ChrX:81992476-84249747 bp, + strand Genetic Position: ChrX, 38.38 cM, cytoband C
• Alliance: Dmd^tm1Ndl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:70757
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Most of the unique unnumbered first exon encoding the shorter alternative splice transcript Dp71 was replaced with a promoterless Betageo gene. This exon is located in intron 62 of the Dmd gene. Western blot analysis confirmed the specific inactivation of the alternative splice product Dp71 without affecting the expression of any other DMD isoforms. (J:70757)

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 Dmd Mutation: 153 strains or lines available

References

• Original: J:70757 Sarig R, et al., Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development. Hum Mol Genet. 1999 Jan;8(1):1-10
• All: 19 reference(s)