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Exon 1 was replaced with one in which a C to T transition results in an amino acid substitution of tryptophan for arginine at position 93 (R93W). A self-excising neo cassette was inserted downstream of exon 1 and was subsequently removed. This amino acid substitution mimic the one identified in human SCID patients that abrogates store-operated calcium entry and calcium release-activated channel currents. (J:144861)
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
