A spontaneous G-to-A mutation at position 5,695,295 (GRCm38) changes amino acid 293 from glutamate to lysine (p.E293K). (J:175214, J:176116)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count