Serine codon 14 (TCC) in exon 2 was changed to alanine (GCC) (p.S14A) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 2. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation prevents phosphorylation of the affected residue in the encoded peptide. (J:290419)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count