ENU mutagenesis resulted in a single-nucleotide change in exon 13 that changed a CAG (Gln) to TAG (stop), resulting in premature termination at residue 445. Gene inactivation was confirmed by a lack of signal in immunoblots of homozygote splenocyte lysates. (J:141377)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count