A point mutation of a T to an A at 919, that results in a Tyr to Asn amino acid change at residue 307 (Y307N) and a floxed neomycin cassette within intron 2 were inserted by homologous recombination. The selection cassette was removed by cre mediated recombination. (J:164634)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count