This spontaneous mutation arose at The Jackson Laboratory and is the result of a G-to-A transition at coding nucleotide 1318 resulting in a glutamine to lysine substitution at position 440 (p.E440K). (J:90778, J:163573)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count