This naturally occurring strain-specific allele is the minor allele and represents the A variant of coding SNP rs30712233 and the C variant of splice region SNP rs49812611 and is found in DBA/2J, C3H/HeJ and BALB/cByJ and others. These variants are G and T, respectively, in the reference C57BL/6J strain and in AKR/J and 129S1/SvImJ and others. The G>A variant (c.1976C>T) changes threonine codon 659 (ACT) to isoleucine (ATT) (p.T659I) and the T>C splicing variant at the 9th nucleotide of intron 19 (c.1875+9A>G) disrupts splicing by activating a cryptic splice donor site 4 NT into the intron, which leads to a frameshift and premature stop codon. (J:154116, J:339644)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Spontaneous
Nucleotide substitutions
Recessive
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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