This naturally occurring strain-specific allele is the major allele and represents the G variant of coding SNP rs30712233 and the T variant of splice region SNP rs49812611 and is found in the reference C57BL/6J strain and in AKR/J and 129S1/SvImJ and others. These variants are A and C, respectively, in DBA/2J, C3H/HeJ and BALB/cByJ and others. The rs30712233-G variant (c.1976C) codes for a threonine codon at 659 (ACT) (p.T659) and the rs49812611-T splicing variant at the 9th nucleotide of intron 19 (c.1875+9A) enables normal splicing. (J:154116, J:339644)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Spontaneous
Not Applicable
Dominant
1
1
2

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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