Dmpk^tm1Rdd
Targeted Allele Detail

Summary

• Symbol: Dmpk^tm1Rdd
• Name: dystrophia myotonica-protein kinase; targeted mutation 1, Sita Reddy
• MGI ID: MGI:2182402
• Synonyms: Dmpk^-
• Gene: Dmpk Location: Chr7:18817774-18827746 bp, + strand Genetic Position: Chr7, 9.46 cM
• Alliance: Dmpk^tm1Rdd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:33714
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The insertion of a neomycin selection cassette deleted the 5' untranslated region and exons 1 through 7, encoding the ATP-binding site and serine threonine consensus sequence. Northern blot analysis of total RNA obtained from heart tissue showed an absence of transcript in homozygous mutant mice. The absence of encoded protein was verified by Western blot analysis of muscle and heart tissue obtained from homozygous mutant mice. (J:33714)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Dmpk Mutation: 37 strains or lines available

References

• Original: J:33714 Reddy S, et al., Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy [see comments]. Nat Genet. 1996 Jul;13(3):325-35
• All: 11 reference(s)