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| Nomenclature |
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Symbol:
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Dkc1tm1Ppp
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Name:
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dyskeratosis congenita 1, dyskerin;
targeted mutation 1, Pier Paolo Pandolfi
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MGI ID: |
MGI:2449175 |
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Synonyms: |
Dkc1m |
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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:81054
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Parent Cell Line:
| CJ7 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A hypomorphic allele was generated by insertion of a neo cassette 3' to the wild-type locus. The targeting construct carries a duplication of exons 10-15 of Dkc1, with the neo cassette inserted into exon 10. Northern blot analysis of embryonic fibroblasts derived from mutant mice show a 4-fold and 2-fold decrease in gene expression in hemizygous male and heterozygous females, respectively. (J:81054)
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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:81054
Ruggero D et al.,
"Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification."
Science 2003 Jan 10;299(5604):259-62
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All: |
4 reference(s)
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Analysis Tools
