The BTBR QTL allele contains a non-synonymous coding single nucleotide polymorphism (SNP; S912L) within the coding sequence and eight other SNPs in intergenic regions 5' and 3' to the gene that result in increased expression due to reduced proteosome degradation compared with the C57BL/6J QTL allele. (J:178002)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
QTL
Nucleotide substitutions
Dominant
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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