The open reading frame of the gene is intact. The mutation is thought to be in regulatory regions of the gene. The mutation affects expression of Bmp5 in particular anatomical features within the skeleton. The breakpoints map to the 3' regulatory region of the gene. (J:39260)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count