Codon 1930 in exon 21 was altered from TGC to AGT. This resulted in a substition of cysteine with serine in the encoded protein (p.C1930S). A loxP site flanked neomycin selection cassette that was inserted into intron 21, was removed through Cre-mediated recombination. The mutation renders the protein tyrosine phosphatase catalytic domain inactive. (J:273694)
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