This mutation was discovered in a mouse colony in 1985 at The Jackson Laboratory. The phenotype has been attributed to a deletion of ~150 kb that includes the 3' UTR and sequences encoding the last 96 amino acids of the gene. (J:77488)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count