The targeting construct inserted a T to G mutation in exon 2 responsible for the amino acid substitution of serine with alanine at position 122 (S122A). Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of the modified exon 2. (J:341601)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count