Dkc1^tm1Ppp
Targeted Allele Detail

Summary

• Symbol: Dkc1^tm1Ppp
• Name: dyskeratosis congenita 1, dyskerin; targeted mutation 1, Pier Paolo Pandolfi
• MGI ID: MGI:2449175
• Synonyms: Dkc1^m
• Gene: Dkc1 Location: ChrX:74139460-74153382 bp, + strand Genetic Position: ChrX, 38.15 cM
• Alliance: Dkc1^tm1Ppp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:81054
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Insertion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

19 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Dkc1^tm1Ppp

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: 2 strains or lines available

References

• 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)