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Targeted Allele Detail
Symbol: Dkc1tm1Ppp
Name: dyskeratosis congenita 1, dyskerin; targeted mutation 1, Pier Paolo Pandolfi
MGI ID: MGI:2449175
Synonyms: Dkc1m
Gene: Dkc1  Location: ChrX:75095854-75109777 bp, + strand  Genetic Position: ChrX, 38.15 cM
Germline Transmission:  Earliest citation of germline transmission: J:81054
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted (Hypomorph)
Mutation:    Insertion
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
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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 Dkc1 Mutation:  6 strains or lines available
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
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
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