Dkc1^tm3Pjma
Targeted Allele Detail

Summary

• Symbol: Dkc1^tm3Pjma
• Name: dyskeratosis congenita 1, dyskerin; targeted mutation 3, Philip J Mason
• MGI ID: MGI:3849599
• Synonyms: Dkc1^402E, G402E
• Gene: Dkc1 Location: ChrX:74139460-74153382 bp, + strand Genetic Position: ChrX, 38.15 cM
• Alliance: Dkc1^tm3Pjma page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:149894
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Single point mutation Mutation details: A glycine to glutamic acid point mutation was inserted into exon 12 (G402E) and an IRES neo cassette was inserted in the 3' untranslated region via homologous recombination. (J:91485, J:149894)

Targeting constructs used to create the Dkc1^tm2Pjma and Dkc1^tm3Pjma alleles

Disease models

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:149894 He J, et al., Variable expression of Dkc1 mutations in mice. Genesis. 2009 Jun;47(6):366-73
• All: 2 reference(s)