Insertion of a neomycin resistance cassette introduced two point mutations into exon 4 and placed a neomycin selectable marker flanked by loxP sites downstream of exon 4. The S2G mutation causes a single amino acid change predicted to prevent cleavage of the S2 site of the protein, and a silent point mutation that codes for a PvuI site in place of a BglII site. (J:108516)
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