Mutation watch: Mouse brachyury (T), the T-box gene family, and human disease

Mutation watch: Mouse brachyury (T), the T-box gene family, and human disease Review Mammalian Genome 8, 799-800 (1997). 9 Springer-Verlag New York Inc. 1997 Mutation watch: Mouse brachyury (T), the T-box gene family, and human disease Miriam H. Meisler Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618, USA Received: 27 May 1997 / Accepted: 11 July 1997 The classical mouse mutation brachyury ("short tail"), first de- mapped to three different mouse chromosomes. Each gene had a scribed in 1927, is located in the T/t region of proximal mouse unique temporal and spatial pattem of expression in midgestation Chromosome (Chr) 17. Heterozygotes for null alleles of brachyury embryos, suggesting divergent roles in development. At least five have short tails and mild skeletal defects due to haploinsufficiency. more T-box genes are also present in the mouse genome (Bollag et Homozygous null mice have a severe developmental disorder that al. 1994; Bulfone et al. 1995). In lower vertebrates, homologs of includes defective mesoderm formation and regression of the no- brachyury, such as the Xenopus gene Xbra and the zebrafish gene tochord, and they do not survive beyond El0. Seventy years of no tail (ntl) are widely used as markers for cells of the develop- work on the short tail mouse has Mammalian Genome Springer Journals

Mutation watch: Mouse brachyury (T), the T-box gene family, and human disease

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Copyright © 1997 by Springer-Verlag
Life Sciences; Cell Biology; Anatomy; Zoology
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