Complete omission of exon 21 from Slc12a2 transcripts in mice results in hearing loss

Complete omission of exon 21 from Slc12a2 transcripts in mice results in hearing loss

Abstract Hereditary hearing loss is highly heterogeneous. SLC12A2 is linked to autosomal dominant nonsyndromic hearing loss, DFNA78, with all the pathogenic variants affecting the exon 21. The gene encodes a cotransporter NKCC1 crucial for regulating intracellular osmotic pressure and producing endo...

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Bibliographic Details
Main Authors: Hideki Mutai, Yukiko Kuroda, Shinobu Noji, Saki Ichikawa, Koichi Matsuo, Satoshi Tanaka, Naoyuki Kataoka, Masato Fujioka, Tatsuo Matsunaga
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
Subjects:
Hereditary hearing loss
Mouse model
Splicing
Online Access:https://doi.org/10.1038/s41598-025-99827-7
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https://doi.org/10.1038/s41598-025-99827-7

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