An inherited limb deformity created by insertional mutagenesis in a transgenic mouse.
We have created an insertional mutation that leads to a severe defect in the pattern of limb formation in the developing mouse. The novel recessive mutation is phenotypically identical and non-complementary to two previously encountered limb deformity mutations, and is closely linked to a dominant mutation that gives rise to a related limb dysmorphism. The inserted element thus provides a molecular genetic link with the control of pattern formation in the mammalian embryo.
D000818:Animals; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D005121:Extremities / Q000196:embryology*; D005808:Genes, Recessive; D005816:Genetic Complementation Test; D008324:Mammary Tumor Virus, Mouse / Q000235:genetics; D051379:Mice / Q000196:embryology* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011519:Proto-Oncogenes; D014170:Transformation, Genetic