Exon 9, encoding a proteolytic cleavage site, and flanking intronic sequence were replaced with a neomycin resistance gene cassette. A reduced level of mRNA was detectable by RT-PCR from this allele; sequence analysis revealed splicing from exon 8 to exon 10 without frameshift. However, Western blot analysis revealed that expression of the protein was abolished, and this allele is suggested to be a null. (J:67969)
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