This spontaneous mutation was found to be allelic with rcw by complementation testing versus the original mutation. Exon 4 has been duplicated. This results in a frame shift causing 23 missense amino acids beginning at position 396 and a stop codon at position 419. (J:127311)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count