Evidence of DNA rearrangement at this locus as noted by altered restriction fragment polymorphisms. The Bmp5 open reading frame could not be amplified from strain 38DSD. 38DSD is a 30.7 Mb inversion with breakpoints in intron 6 of Bmp5 and intron 1 of Tmprss4. The Bmp5 breakpoint is between chr9:75,896,515-75,896,518 (4 bp duplicated). The Tmprss4 breakpoint is between chr9:45,190,204-45,190,206 (1 bp deletion). (J:3046, J:39620)
Basic Information
Deletion, Duplication, Inversion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count