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A targeting construct was designed to insert a loxP-flanked transcriptional STOP cassette (Puro-4x polyA) between exons 2 and 3, and an FRT-flanked neomycin (neo) resistance cassette downstream of exon 7 of the gene. A mutation was introduced in amino acid 267 in exon 6, corresponding to human amino acid 280, resulting in a lysine-to-glutamate mutation, (K267E) commonly found in patients with dyskeratosis congenital (DC). Mutant mice were bred with Tg(ACTFLPe)9205Dym mice (on a C57BL/6 congenic background (N10)) to remove the neo selection cassette. (J:207367)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
