ArticleScientific reports2021
Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 3 citations in OpenAlex.
- AAV-mediated Gene Therapy for Hereditary Deafness: Progress and Perspectives.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Review
- Molecular Features of SLC26A4 Common Variant p.L117F.Journal of clinical medicine · 2022Article
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13 authors at 4 institutions in 2 countries.
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Abstract
Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing impairment. Several transgenic mice with different Slc26a4 variants have been generated. However, none have recapitulated the auditory phenotypes in humans. Of the SLC26A4 variants identified thus far, the p.T721M variant is of interest, as it appears to confer a more severe pathogenicity than most of the other missense variants, but milder pathogenicity than non-sense and frameshift variants. Using a genotype-driven approach, we established a knock-in mouse model homozygous for p.T721M. To verify the pathogenicity of p.T721M, we generated mice with compound heterozygous variants by intercrossing Slc26a4
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