Exon 4 was removed by germ-line, cre-mediated recombination resulting a premature stop codon and a frame shift. The absence of transcript was confirmed by RT-PCR and the absence of protein product was confirmed by immunohistochemistry. (J:130266)
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