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Two stop codons in exon 6 were inserted in frame at the end of the sequences encoding the coiled-coil domian (CCD). Unexpected recombination resulted in a 14 base pair (bp) deletion at the end of the CCD, which deleted glutamate E230 and its preceding amino acid, followed by a stop codon. The linker region and WD (tryptophan-aspartic acid) domain are not expressed. An frt-flanked neomycin selection cassette was removed via FLP-mediated recombination in the germline. (J:284788)
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
