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| Nomenclature |
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Symbol:
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Dkc1tm3Pjma
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Name:
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dyskeratosis congenita 1, dyskerin;
targeted mutation 3, Philip J Mason
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MGI ID: |
MGI:3849599 |
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Synonyms: |
Dkc1402E, G402E |
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Gene:
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Dkc1
Location:
ChrX:75095854-75109777 bp, + strand
Genetic Position: ChrX,
38.15 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:149894
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: A glycine to glutamic acid point mutation was inserted into exon 12 (G402E) and an IRES neo cassette was inserted in the 3' untranslated region via homologous recombination. (J:91485, J:149894)
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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 Dkc1 Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:149894
He J et al.,
"Variable expression of Dkc1 mutations in mice."
Genesis 2009 Jun;47(6):366-73
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All: |
2 reference(s)
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Analysis Tools
