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Dkc1tm1Pjma
Targeted Allele Detail
Summary
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
Alliance: Dkc1tm1Pjma page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:138335
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA 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)
Find Mice (IMSR)
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:  3 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory