ArticleGenetics2005
Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics.
Article in Genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 28 citations in OpenAlex.
- Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.Journal of biomedical science · 2020Review
- Myosin VIIa Supports Spermatid/Organelle Transport and Cell Adhesion During Spermatogenesis in the Rat Testis.Endocrinology · 2019Article
- Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Article
- Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy.PloS one · 2013Article
- Insertional mutagenesis by a hybrid piggyBac and sleeping beauty transposon in the rat.Genetics · 2012Article
- Genetics in non-genetic model systems.Current opinion in neurobiology · 2012Review
- Article
- Spatiotemporal expression of tmie in the inner ear of rats during postnatal development.Comparative medicine · 2010Article
- Rat traps: filling the toolbox for manipulating the rat genome.Genome biology · 2010Review
- A mouse forward genetics screen identifies LISTERIN as an E3 ubiquitin ligase involved in neurodegeneration.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The rat is the most extensively studied model organism and is broadly used in biomedical research. Current rat disease models are selected from existing strains and their number is thereby limited by the degree of naturally occurring variation or spontaneous mutations. We have used ENU mutagenesis to increase genetic variation in laboratory rats and identified a recessive mutant, named tornado, showing aberrant circling behavior, hyperactivity, and stereotypic head shaking. More detailed analysis revealed profound deafness due to disorganization and degeneration of the organ of Corti that already manifests at the onset of hearing. We set up a single nucleotide polymorphism (SNP)-based mapping strategy to identify the affected gene, revealing strong linkage to the central region of chromosome 1. Candidate gene resequencing identified a point mutation that introduces a premature stopcodon in Myo7a. Mutations in human MYO7A result in Usher syndrome type 1B, a severe autosomal inherited recessive disease that involves deafness and vestibular dysfunction. Here, we present the first characterized rat model for this disease. In addition, we demonstrate proof of principle for the generation and cloning of human disease models in rat using ENU mutagenesis, providing good perspectives for systematic phenotypic screens in the rat.
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