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Targeted Allele Detail
Symbol: Dmpktm1Rdd
Name: dystrophia myotonica-protein kinase; targeted mutation 1, Sita Reddy
MGI ID: MGI:2182402
Synonyms: Dmpk-
Gene: Dmpk  Location: Chr7:19083849-19093821 bp, + strand  Genetic Position: Chr7, 9.46 cM
Germline Transmission:  Earliest citation of germline transmission: J:33714
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsThe 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  9 strains or lines available
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.03
The Jackson Laboratory