International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


Paul Denny
MRC UK Mouse Genome Centre & Mammalian Genetics Unit
OX11 0RD

Co-Authors:  1)Cadman M, 1)Davies J, 1)McKeone R, 1)Beechey C, 1)Evans T, 1)Marsland T, 1)Mallon A-M, 1)Weekes J, 1)Proutski V, 1)Strivens M, 2)Durbin R, 2)Evans R, 2)Gregory S, 2)Hubbard T, 2)McCann O, 2)Matthews L, 2)Sims S, 4)Cross S, 4)Gautier P, 4)Jackson I, 4)van Heyningen V, 6)Hummerich H, 5)Little P, 3)Botcherby M, 3)Campbell D, 2)Rogers J, 1))Brown S, 1)Arkell R 
Institutions:   1)MRC UK Mouse Genome Centre and Mammalian Genetics Unit, 2)The Sanger Centre, 3)MRC UK Human Genome Mapping Project - Resource Centre, 4)MRC Human Genetics Unit, Western General Hospital, 5)School of Biochemistry & Molecular Genetics, University of New South Wales, 6)MRC Prion Unit, St. Mary's Hospital Medical School

Mutagenesis, mapping and sequencing in the region deleted in the del(13)svea36h mouse

A region specific screen for ENU-induced recessive mouse mutants, using the Del(13)svea36H deletion stock (Del36H), is underway at MRC, Harwell.  This cytogenetically visible deletion is estimated to remove ~20% of mouse Chr 13.  The deleted segment is homologous to a part of human 6p22-25, and removes the Hfh1/Foxq1 gene that is known to be responsible for the recessive coat allele satin.  The satin locus is used as a visible marker in the genetic screen.  To date, 15 recessive lethal pedigrees have been identified in the genetic screen.  Data from the inheritance testing of these pedigrees and from the phenotype analysis of the confirmed recessive mutations will be presented.

In parallel with the recessive mutation screen, we have been constructing genetic and physical maps of the Del36H deletion region.  We have mapped 18 known genes and 39 ESTs within the deletion , using (Del36H x castaneus) F1 hybrids, the EUCIB cross, the T31 radiation hybrid panel (Research Genetics) and BAC STS content.  We have also combined STS screening of the RPCI23 BAC library with fingerprint data from the Genome Sequence Centre, Vancouver, Canada  to establish clone contigs across about 12 Mb of the Del36H region. Minimal tiling paths of BACs have been identified and sequencing of these clones is ongoing.  Our aim is to produce high-quality finished sequence, which will underpin the identification of candidate genes for ENU-induced mutations.

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