This allele is defined by a noncomplementation test with Lystbg. This mutation is the result of a 3 bp in-frame deletion in exon 54 causing the loss of one of the two consecutive isoleucines at codon 3740 and 3741 near the carboxy terminus of the protein. This deletion affects the WD40 domain. (J:7539, J:173521)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count