OMIA:002029-9913 : Retinitis pigmentosa 1 in Bos taurus (taurine cattle)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 180100 (trait) , 603937 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

History: In a landmark project, Michot et al. (2016) analysed the genomic sequence of 1147 bulls (representing 15 European breeds) from the 1000 bull genome project, yielding "2489 putative deleterious variants (stop lost and gained, frameshift, splice acceptor and donor sites, initiator codon variants and missense variants predicted as deleterious with a score of 0 by SIFT) that segregated at a frequency of 5 % or more in at least one of the 15 breeds represented by at least 20 genomes in run 4 of the 1000 bull genomes project". As a proof-of-principle illustration of the nature of these variants, Michot et al. (2016) "investigated the phenotypic consequences of a frameshift variant [see Molecular basis] in the retinitis pigmentosa-1 gene segregating in several breeds and at a high frequency (27 %) in Normande cattle . . . [that] causes progressive degeneration of photoreceptors leading to complete blindness in homozygotes"

Molecular basis: Michot et al. (2016): "a one base pair insertion (Chr14: g.23995411_23995412insA) that affects the retinitis pigmentosa-1 gene (RP1) . . . [and] is predicted to cause a frameshift at codon 791 and to terminate the protein 13 amino acids later (p. R791KfsX13)".

Clinical features: Michot et al. (2016): "Among the four homozygous mutant animals, two heifers aged less than 3 years had normal vision and ocular tests. In contrast, two older animals aged 4.5 and 5.5 years presented respectively marked visual deficit and blindness, in spite of normal pupillary light reflexes. Their ocular fundi showed typical features of bilateral retinal degeneration with a heterogeneous color, multiple focal areas of hyper reflectivity in the tapetal area which could be coalescent, and a reduction in the caliber of retinal blood vessels"

Pathology: Michot et al. (2016): "histological analyses revealed a total absence of photoreceptor outer segments along with a marked thinning and disorganization of the outer nuclear layer with very few remaining nuclei"

Prevalence: Michot et al. (2016): "Interestingly, 89 % (2216/2489) of these polymorphisms were observed in more than one breed and as much as 12 % (308/2489) in all 15 breeds, which indicates (subject to any unregistered crossbreeding event) that the majority of the retained variants existed prior to the splitting of the different cattle populations studied (i.e. at least 500 years ago"

Breed: Normande (Cattle) (VBO_0000322).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RP1 retinitis pigmentosa 1 (autosomal dominant) Bos taurus 14 NC_037341.1 (22335447..22344612) RP1 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
611 Angus (Cattle) Belgian Blue (Cattle) Charolais (Cattle) Gelbvieh (Cattle) Holstein (black and white) (Cattle) Maine-Anjou (Cattle) Normande (Cattle) Red Angus (Cattle) Retinitis pigmentosa 1 RP1 insertion, small (<=20) Naturally occurring variant ARS-UCD1.2 14 g.22340665_22340666insA p.(R791Kfs*13) 2016 27510606

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:002029-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2016 Michot, P., Chahory, S., Marete, A., Grohs, C., Dagios, D., Donzel, E., Aboukadiri, A., Deloche, M.C., Allais-Bonnet, A., Chambrial, M., Barbey, S., Genestout, L., Boussaha, M., Danchin-Burge, C., Fritz, S., Boichard, D., Capitan, A. :
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. Genet Sel Evol 48:56, 2016. Pubmed reference: 27510606. DOI: 10.1186/s12711-016-0232-y.

Edit History

  • Created by Frank Nicholas on 11 Aug 2016
  • Changed by Frank Nicholas on 11 Aug 2016