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| Nomenclature |
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Symbol:
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Dmpktm1Rdd
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Name:
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dystrophia myotonica-protein kinase;
targeted mutation 1, Sita Reddy
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MGI ID: |
MGI:2182402 |
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Synonyms: |
Dmpk- |
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Gene:
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Dmpk
Location:
Chr7:19083849-19093821 bp, + strand
Genetic Position: Chr7,
9.46 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:33714
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Parent Cell Line:
| D3 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Dmpk Mutation:
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0 strains or lines available |
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| References |
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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
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All: |
11 reference(s)
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Analysis Tools
