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Genomic sequence for exons 11-17 and intervening introns was replaced with the following: a loxP site, cDNA sequence for exons 11-17, SV40 poly(A) signal sequences, a second loxP site, cDNA sequence for exons 11-17 where arginine codon 525 (CGT) in exon 15 was changed to histidine (CAT) (p.R525H), SV40 poly(A) signal sequences, and an FRT site flanked neomycin resistance gene cassette. The neo cassette was removed through subsequent Flp-mediated recombination. The allele expresses the wildtype peptide and only after Cre-mediated deletion of the wildtype exons 11-17 sequence will it express the mutated peptide. The mutation, in the helicase domain of the encoded peptide, affects splicing and transcriptional elongation. (J:342740)
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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References Literature
Title
PMID
Journal
Year
IF
