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This spontaneous mutation is the minor variant of SNP rs221612964 that lacks the A in the TATT sequence, resulting in TTT in exon 2. This results in a non-functional gene that is found only in the C57BL/6 strain. All other 16 strains tested have the TATT sequence which yields a functional gene. (J:291240)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
