The targeting vector introduced a G to T mutation in exon 3 that results in the amino acid substitution of glycine with valine at position 568 (G568V). Cre-mediated recombination removed the neomycin resistance cassette. (J:320995)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count