Journal article
High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot
Genomics (San Diego, Calif.), Vol.82(4), pp.452-459
2003
Handle:
https://hdl.handle.net/2376/105399
PMID: 13679025
Abstract
Variation between inbred strains of mice can be used to identify modifier genes affecting the susceptibility to inherited disease. The med
J allele of the sodium channel
Scn8a contains a splice site mutation that results in sodium channel deficiency. The severity of the neurological disorder is determined by the modifier locus
Scnm1. The wild-type allele of the modifier results in correct splicing of 10% of
Scn8a
medJ
pre-mRNA and a dystonic phenotype. The susceptible allele of the modifier in strain C57BL/6J results in 5% correctly spliced transcripts and a lethal phenotype. A mapping cross with C3H using 26 new markers and 2304 affected F2 animals localized the modifier gene to a 950-kb interval on mouse chromosome 3. Fine mapping of recombination breakpoints revealed a recombination hot spot of 1.3 kb. The ratio of genetic to physical distance in the hot spot is 85 cM/Mb, two orders of magnitude higher than the mouse genome average of 0.5 cM/Mb. The role of the modifier in other disorders in human and mouse can be tested with linked markers described here.
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Details
- Title
- High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot
- Creators
- David A Buchner - Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-0618, USAMichelle Trudeau - Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-0618, USAAlfred L George - Division of Genetic Medicine, Vanderbilt University, Nashville, TN 37232, USALeslie K Sprunger - Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-0618, USAMiriam H Meisler - Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-0618, USA
- Publication Details
- Genomics (San Diego, Calif.), Vol.82(4), pp.452-459
- Publisher
- Elsevier Inc
- Identifiers
- 99900546612401842
- Language
- English
- Resource Type
- Journal article