A floxed neo cassette was inserted downstream of exon 4 and exon 2, 3 and 6 were replaced with the corresponding exons containing nucleotide substitutions that resulted in amino acid substitutions of alanine for serine at positions 72, 142 and 310 (S72A, S142A and S310A). The neo cassette was removed by germ-line, cre-mediated recombination. (J:132560)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count