Evidence map›Paper›PMID 39930205›Full record

ArticleAdvances in experimental medicine and biology2025

A Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.

Lars Tebbe, Muayyad R Al-Ubaidi, Muna I Naash

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Article in Advances in experimental medicine and biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

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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

2 citing papers in PubMed.

  1. Article
  2. Review
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

3 authors.

Lars TebbeDepartment of Biomedical Engineering, University of Houston, Houston, TX, USA.
Muayyad R Al-UbaidiDepartment of Biomedical Engineering, University of Houston, Houston, TX, USA. malubaid@central.uh.edu.ORCID https://orcid.org/0000-0002-4914-350X
Muna I NaashDepartment of Biomedical Engineering, University of Houston, Houston, TX, USA. mnaash@central.uh.edu.ORCID https://orcid.org/0000-0002-6534-5144

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Usher syndrome (USH) is the predominant cause of inherited deaf-blindness, largely attributed to type 2A (USH2A) mutations, and particularly the prevalent c.2299delG mutation. While knockout models successfully replicated the cochlear phenotype of USH, recapitulating the retinal phenotype proved challenging. Given that patient mutations often lead to mutant protein expression rather than its absence, we developed a knockin model expressing the mouse equivalent of the c.2299delG mutation in USH2A. This model exhibited a functional decline in the retina, characterized by retinal degeneration, structural anomalies in the connecting cilium and outer segment, and mislocalization of mutant USH2A and its interacting partners ADGRV1 and whirlin. Remarkably, retinal symptoms manifested earlier than in the Ush2a

Indexed as

Extracellular Matrix ProteinsHearing LossMutationRetinal DegenerationUsher SyndromesAnimalsCochleaDisease Models, AnimalGene Knock-In TechniquesHumansMembrane ProteinsMicePhenotypeReceptors, G-Protein-CoupledRetinaAdgrv1 protein, mouseExtracellular Matrix ProteinsMembrane ProteinsReceptors, G-Protein-CoupledUsh2a protein, mouseAnkle link complexc.2299delG mutationHearing lossKnockin mouse modelPericiliary complexRetinitis pigmentosaUsherinUsher Syndrome

Identifiers

PMID39930205

What OpenQuestion holds

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Registered trials

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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.