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Two point mutations were introduced to exon 1 of the gene. The first was a silent C>G, to eliminate a Hinf1 restriction site to aid in genotyping, and the second was the pathogenic A>G, to introduce the p.Y141C substitution in the encoded protein. An frt site flanked neomycin selection cassette was removed via Flp-mediated recombination. (J:215646)
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
