Dkc1^tm1.1Pjma
Targeted Allele Detail

Summary

• Symbol: Dkc1^tm1.1Pjma
• Name: dyskeratosis congenita 1, dyskerin; targeted mutation 1.1, Philip J Mason
• MGI ID: MGI:3809481
• Synonyms: Dkc1^delta15
• Gene: Dkc1 Location: ChrX:74139460-74153382 bp, + strand Genetic Position: ChrX, 38.15 cM
• Alliance: Dkc1^tm1.1Pjma 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 (Null/knockout)
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: Cre-mediated recombination of Dkc1^tm1Pjma removed exon 15 and a neo cassette leaving a premature stop codon that had been introduced into exon 14. Northern and western blot analysis in ES cells confirmed the expression of a truncated transcript and protein at levels lower than that of wild-type transcript and protein. (J:138335)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 2 reference(s)