Mammalian Genome 12, 323–325 (2001). DOI: 10.1007/s003350010262 Incorporating Mouse Genome © Springer-Verlag New York Inc. 2001 Transgenic rescue of the tattered phenotype by using a BAC encoding Ebp 1 2 1 1 Gary D. Means, Yvonne Boyd, * Cindy R. Willis, Jonathan M.J. Derry Immunex Corporation, 51 University Street, Seattle, Washington 98101, USA MRC Mammalian Genetics Unit, Harwell, Oxon OX11 0RD, UK Received: 7 October 1999 / Accepted: 30 October 2000 Tattered (Td) is an X-linked semi-dominant mouse mutation in which affected males have severe skeletal defects, lack intestines, and die before birth (Uwechue et al. 1996; Derry et al. 1999). Heterozygous females are small and at 4–5 days post partum de- velop patches of hyperkeratotic skin where hair fails to grow (Uwechue et al. 1996). Td/+ females also exhibit mild skeletal defects including craniofacial dysmorphia and asymmetric micro- Fig. 1. A combination of restriction mapping (E 4 EagI, MCS 4 multiple ophthalmia. The phenotype of Td is similar to that seen in patients cloning site) and direct sequencing of BAC75 DNA was used to localize the Ftsjl, DXHXS7465e, and Ebp genes, which are represented schemati- with X-linked dominant chondrodysplasia punctata (CDPX2), cally (arrows indicate the direction of transcription).
Mammalian Genome – Springer Journals
Published: Feb 27, 2001
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