The targeting construct introduced a T to G mutation that results in the amino acid substitution of alanine for serine at position 994 (S994A) and a floxed neomycin resistance cassette into intron 25. Cre-mediated recombination removed the selection cassette. (J:220422)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count