Evidence map›Paper›PMID 40295800›Full record

ArticleScientific reports2025

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

Hideki Mutai, Yukiko Kuroda, Shinobu Noji, Saki Ichikawa, Koichi Matsuo, Satoshi Tanaka, Naoyuki Kataoka, Masato Fujioka, Tatsuo Matsunaga

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Hideki MutaiDivision of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan. mutai.hideki@kitasato-u.ac.jp.
Yukiko KurodaLaboratory of Cell and Tissue Biology, Keio University School of Medicine, Tokyo , Japan.
Shinobu NojiLaboratory of Cell and Tissue Biology, Keio University School of Medicine, Tokyo , Japan.
Saki IchikawaDepartment of Biophysics and Biochemistry, Faculty of Science, The University of Tokyo, Tokyo , Japan.
Koichi MatsuoLaboratory of Cell and Tissue Biology, Keio University School of Medicine, Tokyo , Japan.
Satoshi TanakaLaboratory of Cellular Biochemistry, Department of Animal Resource Sciences/ Veterinary Medical Sciences, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo , Japan.
Naoyuki KataokaLaboratory of Cellular Biochemistry, Department of Animal Resource Sciences/ Veterinary Medical Sciences, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo , Japan.
Masato FujiokaMolecular Genetics, Kitasato University School of Medicine, 1-15-1, Kitazato, Minami-ku, Sagamihara, 252-0374, Kanagawa, Japan.
Tatsuo MatsunagaDivision of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.

Funding

Amgen Foundation Undergraduate Summer Research Program in Science and Biotechnology 2022Japan Society of Promotion of Sciences 18K0933Japan Society of Promotion of Sciences Platform for Advanced Genome Science 212118Uehara Memorial Foundation 201820479
6 · The paper itself

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 endolymph in the cochlea. We generated two mouse strains with heterologous Slc12a2 variants in the splice site of the exon 21 (Em1: NM_009194.3:c.2912-2 A > G and Em2: c.2912-4_2913del). Slc12a2

Indexed as

ExonsHearing LossSolute Carrier Family 12, Member 2AnimalsCochleaDisease Models, AnimalEndolymphEvoked Potentials, Auditory, Brain StemFemaleMaleMiceStria VascularisSlc12a2 protein, mouseSolute Carrier Family 12, Member 2Hereditary hearing lossMouse modelSplicing

Identifiers

PMID40295800
PMCPMC12038040

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.