Gap repair produced the amino acid substitution of alanine for isoleucine at position 53 (53A) as well as introducing two silent restriction sites (SacI and XbaI) into exon 3. A floxed neomycin resistance cassette was introduced into intron 3 and removed by cre-mediated recombination. (J:283578)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count