The mutation was identified as an allele of Myo5a by its failure to complement Myo5ad. This mutation in the middle of exon 32 does not change encoded amino-acid sequence but causes skipping of this exon according to RT-PCR sequencing. (J:47547)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count