Summary | Mutation origin | Mutation description | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Dkc1tm3Pjma
Name:	dyskeratosis congenita 1, dyskerin; targeted mutation 3, Philip J Mason
MGI ID:	MGI:3849599
Synonyms:	Dkc1402E, G402E
Gene:	Dkc1  Location: ChrX:74139460-74153382 bp, + strand  Genetic Position: ChrX, 38.15 cM
Alliance:	Dkc1tm3Pjma page

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

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 Dkc1tm2Pjma and Dkc1tm3Pjma alleles

View phenotypes and curated references for all genotypes (concatenated display).

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

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)