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An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.

Publication ,  Journal Article
Fernandez, L; Marchuk, DA; Moran, JL; Beier, DR; Rockman, HA
Published in: Mamm Genome
May 2009

N-ethyl-N-nitrosourea (ENU) mutagenesis screens have been successful for identifying genes that affect important biological processes and diseases. However, for heart-related phenotypes, these screens have been employed exclusively for developmental phenotypes, and to date no adult cardiomyopathy-causing genes have been discovered through a mutagenesis screen. To identify novel disease-causing and disease-modifying genes for cardiomyopathy, we performed an ENU recessive mutagenesis screen in adult mice. Using noninvasive echocardiography to screen for abnormalities in cardiac function, we identified a heritable cardiomyopathic phenotype in two families. To identify the chromosomal regions where the mutations are localized, we used a single nucleotide polymorphism (SNP) panel for genetic mapping of mouse mutations. This panel provided whole-genome linkage information and identified the mutagenized candidate regions at the proximal end of chromosome 1 (family EN1), and at the distal end of chromosome 15 (family EN25). We have identified 94 affected mice in family EN1 and have narrowed the candidate interval to 1 Mb. We have identified 20 affected mice in family EN25 and have narrowed the candidate interval to 12 Mb. The identification of the genes responsible for the observed phenotype in these families will be strong candidates for disease-causing or disease-modifying genes in patients with heart failure.

Duke Scholars

Published In

Mamm Genome

DOI

EISSN

1432-1777

Publication Date

May 2009

Volume

20

Issue

5

Start / End Page

296 / 304

Location

United States

Related Subject Headings

  • Mutagens
  • Mutagenesis
  • Mice, Inbred DBA
  • Mice, Inbred C57BL
  • Mice
  • Male
  • Humans
  • Heart Failure
  • Heart
  • Genetics & Heredity
 

Citation

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MLA
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Fernandez, L., Marchuk, D. A., Moran, J. L., Beier, D. R., & Rockman, H. A. (2009). An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15. Mamm Genome, 20(5), 296–304. https://doi.org/10.1007/s00335-009-9184-7
Fernandez, Liliana, Douglas A. Marchuk, Jennifer L. Moran, David R. Beier, and Howard A. Rockman. “An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.Mamm Genome 20, no. 5 (May 2009): 296–304. https://doi.org/10.1007/s00335-009-9184-7.
Fernandez, Liliana, et al. “An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.Mamm Genome, vol. 20, no. 5, May 2009, pp. 296–304. Pubmed, doi:10.1007/s00335-009-9184-7.
Journal cover image

Published In

Mamm Genome

DOI

EISSN

1432-1777

Publication Date

May 2009

Volume

20

Issue

5

Start / End Page

296 / 304

Location

United States

Related Subject Headings

  • Mutagens
  • Mutagenesis
  • Mice, Inbred DBA
  • Mice, Inbred C57BL
  • Mice
  • Male
  • Humans
  • Heart Failure
  • Heart
  • Genetics & Heredity