ENU mutagenesis induced a C to T point mutation upstream of exon 18 which introduces an introgenic 1 G nucleotide of the sonsensus splice acceptor sequence. The altered splice acceptor results in a frameshift and truncation at exon 18. Flow cytometry confirmed the absence of protein expression on the surface of B lymphocytes. (J:225105)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count