Cre mediated recombination was used to remove exon 3. Removal of this exon is predicted to result in splicing of exon 2 to a downstream exon, resulting in out-of-frame splicing. Exon 3 encodes the majority of the R1 repeat. Mutants demonstrated abolishment of isoforms containing the DCX domain. (J:105300)
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