Phenotypic and molecular analysis of a transgenic insertional allele of the mouse Fused locus.

摘要: Spontaneous mutations at the mouse Fused (Fu) locus cause dominant skeletal and neurological defects recessive lethal embryonic including neuroectodermal abnormalities axial duplications. Here, we describe a new allele Fu caused by transgenic insertional mutation, H epsilon 46. Embryos homozygous for 46 insertion die day 9-10 post coitum display phenotypic similar to those associated with alleles. The was cloned shown contain 20-kb deletion site of transgene no other detectable rearrangements. Genomic probes from were mapped genetic closely linked on chromosome 17 hybridized YAC contig covering FuKi critical region. Compound heterozygotes between inviable displayed same stage embryogenesis as do homozygotes either two mutations, demonstrating that these belong complementation group. A genomic probe wild-type detected transcript is disrupted insertion, representing candidate Fused.