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Allele : Dkc1<tm1Pjma> dyskeratosis congenita 1, dyskerin; targeted mutation 1, Philip J Mason

Primary Identifier	MGI:3809480	Allele Type	Targeted
Attribute String	Conditional ready, No functional change	Gene	Dkc1
Transmission	Germline	Strain of Origin	129X1/SvJ
Is Recombinase	false	Is Wild Type	false

molecularNote

A T to A mutation introduced a premature stop codon at the end of exon 14 and loxP sites were inserted flanking exon 15 and a neo-cassette.

mutations:
Single point mutation,
Insertion

cellLines:
Not Specified

synonyms:
Dkc1<floxed15>,
Dkc1<floxed15>

earliestPublication:
Gu BW, et al. (2008) 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 105(29):10173-8

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

4 Publication categories

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