The mutation in the robotic mouse was identified as a T to C transition in the second base of codon 280 resulting in a valine to alanine substitution (p.V280A) in a highly conserved region of the encoded protein. (J:82265)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count