A targeting vector was designed to introduce a G to A point mutation at position 952 in exon 9, resulting in a glutamate to lysine change at amino acid 318, and a floxed neomycin resistance cassette. Cre-mediated recombination removed the selection cassette. (J:245620)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count