International Mammalian Genome Society

The 13th International Mouse Genome Conference
October 31-November 3, 1999

Table of Contents * Structure * Bioinformatics * Sequence * Mapping * New Tools * Gene Discovery * Developmental * Mutagenesis * Functional Genomics

D13 Genetic and Physical Maps of the Mouse del36H Deletion

Paul Denny1, Matthew Cadman1, Tracy Marsland1, Ruth Arkell1, Owen McCann2, Lucy Matthews2, Sarah Sims2, Stephan Beck2, Jane Rogers2 & Steve Brown1. 1MRC UK Mouse Genome Centre and Mammalian Genetics Unit, Harwell, UK, and 2The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK

A region-specific screen for ENU-induced recessive lethal and viable mutations has recently begun at MRC Harwell. Specifically we are screening for recessive mutations at the del36H deletion. This cytogenetically visible deletion is estimated to represent 12-15 Mb of mouse chromosome 13 and is homologous to human chromosome 6p22-p25. A number of disease phenotypes have been mapped to these regions including a potential schizophrenia locus(1) (6p22-p24), as well as loci for dyslexia (6p22.1)(2), deafness (DFNA13 in 6p22)(3), orofacial clefting (6p23-25) and glaucoma/iridogoniodysgenesis (6p25).

In parallel with the recessive mutation screen, we have been constructing genetic and physical maps of the del36H deletion region. Using a combination of resources, including (del36H X castaneus)F1 hybrids, the EUCIB cross and the T31 radiation hybrid panel (Research Genetics), a number of genes and ESTs have been mapped into the deleted region. We have also established a 2-fold coverage YAC contig, integrating our own data with that from the Whitehead/MIT genome-wide YAC map. Bacterial clone (BAC and PAC) contigs have been constructed around the satin (sa) and congenital hydrocephalus (ch) loci, both of which are included in the deletion, and clones forming minimal tiling paths identified. Sequencing of these clones is underway and will provide essential resources to aid the identification of loci underlying the mutations recovered.

1. see Nature Genetics (1995) 11: pp. 233-236; pp. 287-292; pp. 321-327.

2. Grigorenko et al. (1997) Am. J. Hum. Genet. 60: 27-39.

3. Brown et al. (1997) Am. J. Hum. Genet. 60: 924-927.


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