A spontaneous mutation resulted in a C to T transition in the second exon. The transition results in a C- terminal truncation by changing amino acid 214 from glutamine (CAG) to a stop codon (TAG). RT-PCR showed reduced transcript level and western blots of protein extracts from spleens showed no specific Ab labeling in the positions expected for TRAF3IP2.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
KOR
Spontaneous
Nucleotide substitutions
Recessive
1
4
1

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

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PMID
Journal
Year
IF
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