The serine to cysteine amino acid substitution was introduced at amino acid position 723. A floxed neomycin cassette was introduced downstream of the single coding exon and was later removed by transient expression of cre recombinase. Expression levels of the mutant protein were similar to endogenous levels as determined by immunoblot analysis of homozygote thymus. This allele is considered a functional hypomorph. (J:146912)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
7
4

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

References Literature

Title
PMID
Journal
Year
IF
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