Dkc1^tm2.1Bsl
Targeted Allele Detail

Summary

• Symbol: Dkc1^tm2.1Bsl
• Name: dyskeratosis congenita 1, dyskerin; targeted mutation 2.1, Monica Bessler
• MGI ID: MGI:2446502
• Synonyms: DeltaDC7
• Gene: Dkc1 Location: ChrX:74139460-74153382 bp, + strand Genetic Position: ChrX, 38.15 cM
• Alliance: Dkc1^tm2.1Bsl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:80494
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The floxed region of Dkc1^tm2Bsl containing the coding region of exon 15 and IRES-neo was excised via in vivo cre mediated recombination in the germline. The deleted region encoded 21 amino acids of the carboxy terminal and corresponds with a deletion observed in a patient with dyskeratosis congentia (DC). (J:80494)

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:80494 He J, et al., Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene. 2002 Oct 31;21(50):7740-4
• All: 1 reference(s)