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.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count