International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany

Plenary Presentations * Oral Presentations *
Poster Presentations: Behavioural Genetics and Genomics * Development and Stem Cells * Functional Genome Analysis * Mouse Models of Human Disease * Mouse System Biology Bioinformatics * Multigenic and Multifactorial Trait Analysis * Nutrition and Metabolic Disease * Phenotyping Methods Imaging * The Genetics and Genomics of Infectious Disease *
Verne Chapman Memorial Lecture * Table of Contents * Sponsor/Exhibitor List * Awards * Photographs

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POSTER 43 - MAPPING MUTATIONS ARISING FROM A LETHAL RECESSIVE SCREEN WITHIN THE Del(13)Svea36H REGION OF MOUSE CHROMOSOME 13

McKeone R
MRC Harwell

Co-Authors: Southwell A, Cadman M, Arkell R, Davies J, Bogani D, Mallon A, Weekes J, Denny P
Institutions: MRC Harwell

Parallel phenotype- and genotype-driven mutagenesis screens are being used in the functional annotation of the Del(13)Svea36H (=Del36H) region of mouse chromosome 13. The phenotype-driven screen uses mice with the Del36H deletion as a tool to uncover recessive ENU-induced mutations. Positional candidate cloning of these mutations requires full annotation of gene content and fine-scale recombination mapping. However, mapping mutations was hampered because there were too few genetic markers within the Del36H region that were informative for strains involved in our crosses (C57BL/6J, BALB/cAnN, C3H/HeH, 101/H), despite there being >12,000 mouse genetic markers¹,. We therefore identified microsatellites in BAC sequences from the Del36H interval, designed PCR assays and tested these for polymorphism by SSCP. Seven of these markers and three MIT markers are being used for high-throughput genotyping of mutant lines arising from a screen for lethal recessive mutations.

In order to recover additional alleles for selected genes in the Del36H interval, an archive of DNA from the male F1 progeny of ENU mutagenised mice is being screened for mutations. Mutant lines can be re-derived from an associated frozen sperm archive.

Two mutations have been found in the forkhead DNA binding transcription factor, Foxf2, one silent and the other a miss-sense mutation in a highly conserved position in the DNA binding domain.

Progress in fine mapping of recessive lethal mutations in the Del36H region and in assessing the phenotypic and molecular consequences of the Foxf2 mutation will be reported.

[1] http://www.informatics.jax.org/