title: Genetics analysis of mouse mutations Abnormal feet and tail and rough coat, which cause developmental abnormalities and alopecia.
abstract: Mutations in the mouse Brachyury (T) gene are characterized by a dominant reduction of tail length and recessive lethality. Two quantitative trait loci, Brachyury-modifier 1 and 2 (Brm1 and Brm2) are defined by alleles that enhance the short-tail Brachyury phenotype. Here we report on a genetic analysis of a visible dominant mutation Abnormal feet and tail (Aft) located in the vicinity of Brm1. Affected animals display kinky tails and syndactyly in the hindlimbs, both likely resulting from a defect in apoptosis. We observed an unusual genetic incompatibility between Aft and certain genetic backgrounds. We show that Aft and T are likely to interact genetically, since some double heterozygotes are tailless. In addition to the tail and hindlimb phenotypes, Aft-bearing mutants display characteristic late-onset skin lesions. We therefore tested for allelism between Aft and a closely linked recessive mutation rough coat (rc) and found that these two mutations are likely nonallelic. Our results provide a valuable resource for the study of mammalian skin development and contribute to the genetic analysis of Brachyury function.
authors.affiliation: Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544, USA. ruvinsky@molbio.mgh.harvard.edu
authors.forename: Ilya
authors.initials: I
authors.lastname: Ruvinsky
authors.forename: Olga
authors.initials: O
authors.lastname: Chertkov
authors.forename: Xenia V
authors.initials: XV
authors.lastname: Borue
authors.forename: Sergei I
authors.initials: SI
authors.lastname: Agulnik
authors.forename: Jeremy J
authors.initials: JJ
authors.lastname: Gibson-Brown
authors.forename: Stephen R
authors.initials: SR
authors.lastname: Lyle
authors.forename: Lee M
authors.initials: LM
authors.lastname: Silver
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000483:Alleles; D000505:Alopecia / Q000235:genetics*; D000818:Animals; D003433:Crosses, Genetic; D005314:Embryonic and Fetal Development; D005260:Female; D005326:Fetal Proteins; D005532:Foot Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D018507:Gene Expression Regulation, Developmental; D005799:Genes, Dominant; D005804:Genes, Lethal; D005808:Genes, Recessive; D005819:Genetic Markers; D005838:Genotype; D006197:Hair / Q000002:abnormalities* / Q000473:pathology; D006614:Hindlimb / Q000002:abnormalities; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018895:Microsatellite Repeats; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D019655:Quantitative Trait, Heritable; D013576:Syndactyly / Q000235:genetics; D020825:T-Box Domain Proteins / Q000235:genetics*; D013623:Tail / Q000002:abnormalities* / Q000473:pathology; D000098908:Brachyury Protein
chemical_list: D005326:Fetal Proteins; D005819:Genetic Markers; D020825:T-Box Domain Proteins; D000098908:Brachyury Protein