OMIA:003081-9544 : Usher syndrome, WHRN-related in Macaca mulatta (Rhesus monkey)

Categories: Vision / eye phene , Hearing / vestibular / ear phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607928 (gene) , 607084 (trait) , 611383 (trait)

Single-gene trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2026

Molecular basis: Ripolles-Garcia et al. (2026) "identified five rhesus macaques homozygous for a missense variant in WHRN (p.Val495Met in exon 7) ... "

Clinical features: WHRN homozygote rhesus monkeys presented with a subtle ocular biometry phenotype (Ripolles-Garcia et al., 2026).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
WHRN whirlin Macaca mulatta 15 NC_133420.1 (43816947..43924833) WHRN Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Variant Type Variant Effect Source of Genetic Variant AVCG Pathogenicity Classification* Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1940 Ocular morphology changes WHRN substitution missense Naturally occurring variant Not currently evaluated Mmul_8.0.1 15 NC_027907.1:24986427G>A XM_001096493.3:c.1483G>A XP_001096493.2:p.(V495M) rs1073963903 2026 42528884

* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003081-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2026 Ripolles-Garcia, A., Raposo, A., Le, S.M., Shim, J., Park, S., Roszak, K., Lin, K.H., Khan, M., Lee, S., Thienpaitoon, R., Gao, L., Wang, J., Knipe, M.F., Stout, T., Rogers, J., Chen, R., Moshiri, A., Thomasy, S.M. :
A WHRN mutation impacts ocular morphology in rhesus macaques. Front Cell Dev Biol 14:1818625, 2026. Pubmed reference: 42528884. DOI: 10.3389/fcell.2026.1818625.

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  • Created by Imke Tammen on 04 Oct 2026