The molecular mutation is a G-to-T base pair change on chromosome 9 at 53,157,219 (GRCm38/mm10). This single base pair change results in a p.D736E mutation, changing a highly conserved amino acid in the encoded protein. (J:223062)
Basic Information
(C57BL/6J x 129S1/SvImJ)F2/J
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count