Evidence for allelism of the recessive insertional mutation add and the dominant mouse mutation extra-toes (Xt)

• Published in: Development (Cambridge) Vol. 110; no. 4; pp. 1153 - 1157
• Main Authors: POHL, T. M, MATTEI, M.-G, RUÊTHER, U
• Format: Journal Article
• Language: English
• Published: Cambridge The Company of Biologists Limited 01.12.1990; Company of Biologists
• Subjects: Alleles; Animals; Biological and medical sciences; Bone and Bones - pathology; Classical genetics, quantitative genetics, hybrids; Fundamental and applied biological sciences. Psychology; Genes, Recessive; Genetics of eukaryotes. Biological and molecular evolution; Hindlimb - pathology; Mice; Mice, Transgenic - genetics; Molecular Probe Techniques; Mutagenesis, Insertional - genetics; Phenotype; Polymorphism, Restriction Fragment Length; Vertebrata; Genetic mapping; Allelism; Vertebrata; Dominance recessiveness; Mammalia; Restriction fragment length polymorphism; Mouse; DNA; Leg(invertebrata); Rodentia; Development; Mutation
• ISSN: 0950-1991; 1477-9129
• DOI: 10.1242/dev.110.4.1153

A recessive mutant caused by insertional mutagenesis in transgenic mice has been detected in which the anterior part of the forelimb is disorganized. The morphology of the thumb is always altered and sometimes the adjacent finger has an extra phalanx. This phenotype suggests that a body plan gene is affected. We have named the mutation add (anterior digit-pattern deformity). Using the cloned DNA from the flanking region of the integrated transgene, add has been mapped close to the centromere of chromosome 13. This position links add to a genetically mapped locus called extra-toes (Xt). The phenotype of the double-mutant add/Xt as well as the molecular analysis suggest that add and Xt are allelic.