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EN
A C to G single-base pair substitution that changes the Tyrosine 632 codon (TAC) to a stop codon (TAG; Y632X) was introduced by site-directed mutagenesis in exon 3. A neomycin selection cassette flanked by FRT sites was inserted 199 bp upstream of the native stop codon into a non-conserved region of 3-UTR in exon 2 which is devoid of potential microRNA-binding sites. The selection cassette was excised via flp-mediated recombination. mRNA is stable and mRNA levels are similar to wild-type levels. (J:267200)
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
