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

F32 Mapping and Manipulation of the Murine Ryanodine Receptor Locus (Ryr1)

P. Kathirvel, E. Hitchin1, R. Ansell, J. McWhir, J. D. Ansell and A. L. Archibald. Roslin Institute, Roslin, Midlothian EH25 9PS, Scotland, UK (1current address, John Innes Centre, Norwich)

The skeletal muscle sarcoplasmic reticulum calcium release channel (also known as the ryanodine receptor, Ryr1) gene has been extensively characterized in humans and pigs. Mutations in the gene are associated with susceptibility to malignant hyperthermia (MH) and central core disease (CCD) in humans and with MH in pigs. The disease allele in pigs is also associated with reduced body fat. We are developing transgenic mouse models of these Ryr1 mutations in order to examine the putative causal links between the mutations and these phenotypes. Here we report on contig mapping the Ryr1 locus in bacterial artificial chromosome (BAC) clones and P1-derived artificial chromosome (PAC) clones. RT-PCR was used to construct a cDNA contig and partially sequenced. We have created Ryr1 knockout transgenic mice. Mice homozygous for the disrupted Ryr1 gene die shortly after birth.


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