5 point mutations were engineered and incorporated at the endogenous locus via homologous recombination of a targeting vector. Each mutation elicited a missense mutation, ablating tyrosine residues involved in PI3-K, RasGAP, SHP-2, and PLC-gamma signal transduction. Tyrosines at codons 739, 750, 770, and 1008 are substituted with phenylalanine, and a tyrosine at 1020 is substituted with isoleucine. A single loxP site was left in intron 16. (J:86542)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count