This allele was identified by a complementation test. Sequencing revealed a correctly spliced transcript with a G-to-A substitution at base 932 of the Bmp5 coding region. The G-to-A mutation changes the first arginine in the RXXR processing site to a glutamine. (J:136831)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count