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Updated: Aug 5, 2026
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Gene Editing of Primary Rhesus Macaque B Cells
Published on: February 10, 2023
A WHRN mutation impacts ocular morphology in rhesus macaques
Ana Ripolles-Garcia1, Ana Raposo1, Sophie M Le1
1Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California, Davis, CA, United States.
Frontiers in Cell and Developmental Biology
|July 30, 2026
Summary
Rhesus macaques with a whirlin (WHRN) gene variant show altered eye measurements but preserved retinal structure. Further auditory testing is needed to rule out subtle hearing deficits.
Area of Science:
- Genetics
- Ophthalmology
- Audiology
Background:
- Rhesus macaques are valuable models for inherited sensory disorders.
- Naturally occurring genetic variants in primate models often lack defined phenotypic impact.
- Understanding these variants is crucial for accurate disease modeling.
Purpose of the Study:
- To investigate the phenotypic consequences of a specific WHRN gene variant in rhesus macaques.
- To compare ocular and auditory function in macaques homozygous for WHRN p.Val495Met with wild-type controls.
- To assess the utility of these macaques as models for Usher syndrome.
Main Methods:
- Identified five rhesus macaques homozygous for the WHRN p.Val495Met variant.
- Compared them with five age- and sex-matched wild-type controls.
- Conducted comprehensive ocular and auditory phenotyping, including biometry, imaging, electroretinography, and brainstem auditory evoked response testing.
Main Results:
- WHRN homozygotes exhibited significantly reduced lens thickness but maintained emmetropic refractive error.
- Retinal morphology and electroretinography waveforms were comparable between groups.
- Brainstem auditory evoked responses showed no overt hearing impairment under tested conditions.
Conclusions:
- Homozygosity for WHRN p.Val495Met results in a subtle ocular biometry phenotype in rhesus macaques.
- Retinal structure and function appear preserved at the time of testing.
- Further auditory phenotyping is required to detect potential subtle, frequency-specific hearing deficits characteristic of atypical Usher syndrome.
