Dkc1tm1Pjma
Targeted Allele Detail
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Symbol: |
Dkc1tm1Pjma |
Name: |
dyskeratosis congenita 1, dyskerin; targeted mutation 1, Philip J Mason |
MGI ID: |
MGI:3809480 |
Synonyms: |
Dkc1floxed15 |
Gene: |
Dkc1 Location: ChrX:74139460-74153382 bp, + strand Genetic Position: ChrX, 38.15 cM
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Alliance: |
Dkc1tm1Pjma page
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Germline Transmission: |
Earliest citation of germline transmission:
J:138335
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Parent Cell Line: |
RW-4 (ES Cell)
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Strain of Origin: |
129X1/SvJ
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Allele Type: |
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Targeted (Conditional ready, No functional change) |
Mutations: |
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Insertion, Single point mutation
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Mutation details: A T to A mutation introduced a premature stop codon at the end of exon 14 and loxP sites were inserted flanking exon 15 and a neo-cassette.
(J:138335)
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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
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Carrying any Dkc1 Mutation: |
3 strains or lines available
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Original: |
J:138335 Gu BW, et al., A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice. Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10173-8 |
All: |
1 reference(s) |
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