A 2.4 Kb deletion at the 3' end of the gene, encompassing exon 6, occurred spontaneously in the DBA/2J colony at the Jackson Laboratory between 1984 and 1989. This mutation does not prevent translation or cell surface expression of the predicted protein. (J:163228)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count