An IRES-LacZ-neo cassette was inserted into exon 2 of the gene, truncating the carboxyl-terminal active domain of the protein. In addition, this cassette was inserted in a region where point mutations create loss-of-function proteins. Finally, alternative splicing around the disrupted exon would shift the open reading frame. (J:49839)
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