The coding region of exon 3, which is the last coding exon, was replaced with a neomycin selection cassette inserted by homologous recombination. RT-PCR analysis of homozygous mutant embryos indicated an absence of normal transcript, but identified a mutant transcript containing exons 1 and 2. The mutant transcript lacks exon 3 sequence and therefore does not encode the putative HSPG and FGFR binding sites. (J:90407)
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