This mutation was identified by IgM+ B-cell proliferation and flow cytometry screening of progeny of an ENU treated mouse. The mutation is an A to T substitution at nucleotide position 925 of the cDNA sequence (NCBI m37, Ensembl build 62), in a region corresponding to exon 5 of the gene. It results in replacement of aspartic acid by valine at amino acid position 215 of the protein. (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count