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Mamm Genome ; 13(12): 675-9, 2002 Dec.
Article in English | MEDLINE | ID: mdl-12514744

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.


Subject(s)
Abnormalities, Multiple/genetics , Alopecia/genetics , Fetal Proteins , Foot Deformities, Congenital/genetics , Gene Expression Regulation, Developmental , Hair/abnormalities , T-Box Domain Proteins/genetics , Tail/abnormalities , Alleles , Animals , Crosses, Genetic , Embryonic and Fetal Development , Female , Foot Deformities, Congenital/pathology , Genes, Dominant , Genes, Lethal , Genes, Recessive , Genetic Markers , Genotype , Hair/pathology , Hindlimb/abnormalities , Male , Mice , Mice, Inbred C57BL , Microsatellite Repeats , Mutation/genetics , Phenotype , Quantitative Trait, Heritable , Syndactyly/genetics , Tail/pathology
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