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The allele was designed to introduce a threonine-to-cysteine mutation at codon 152 (T152C counting from the start codon; or T125C in the mature peptide sequence) into exon 5 of the gene. The targeting vector also includes a loxP-flanked neomycin selection cassette upstream of exon 5, as well as a C-to-T silent mutation in the exon 5 DNA sequence (to create a HindIII site upstream of T152C for genotyping). Cre-mediated recombination removed the floxed neo cassette. (J:230569)
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
