A neomycin resistance cassette replaced a genomic fragment containing exons 7, 8 and 9 of the gene. These exons encode Ig domain IIIa, b and c. A mutant transcript that splices exon 6 in frame to exon 10 was detected by RT-PCR analysis, although at about one fifth of the wild-type levels. Western blot analysis revealed that a mutant protein is expressed in E10.5 homozygous embryos, but binding assays demonstrated that this mutant protein did not bind ligand. (J:46380)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count