A point mutation was engineered and incorporated in codon 770 of the endogenous locus via homologous recombination. The mutation results in a tyrosine to phenylalanine substitution (Y770F) at a site crucial for RasGAP signal transduction. (J:86542)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count