This mutation, identified in a screen of G3 progeny of an ENU mutagenized mouse for failure to mount a humoral immune response to a model antigen, comprises a C to T transition at nucleotide position 1269 of the genomic sequence, in the sixth of the gene's 16 exons. It replaces the codon specifying arginine at position 396 with a termination codon (R396Ter). (J:152065)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count