A targeting vector was used to place a floxed neomycin-thymidine kinase expression cassette downstream of exons 2, 3, and 4, and a loxP site upstream of the exons. Cre-mediated recombination removed the neo cassette and exons 2-4 leaving a residual loxP site. Removal of exons 2-4 causes a frameshift at the junction of exon 1 and 5, generating a new translational termination codon that results in a truncated protein lacking the catalytic domain. (J:212313)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count