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A single nucleotide point mutation (C>T) in exon 12 at position 2548 of the cDNA changes glutamine codon 764 CAA to premature stop codon TAA which is predicted to generate a truncated protein of 763 amino acids. This T version of the allele is only found in B6 and BTBR T+ Itprtf/J (Jax strain: 002282) strains. This allele is wild-type (C version, coding) in 20 non-B6 strains. (J:81437, J:245487)
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
