OMIA:001675-61379 : Retinal atrophy - Cone-rod dystrophy 2 in Felis nigripes (black-footed cat)

In other species: dog

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609237 (gene) , 609254 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: This disorder has been named in OMIA on the basis of the review by Miyadera et al. (2012)

Molecular basis: Oh et al (2017); '2 base pair (bp) deletion in exon 13 (c.1282delCT) . . . p.L428*'

Clinical features: Oh et al. (2017); 'The diagnosis of early-onset progressive retinal atrophy (PRA) was supported by reduced direct and consensual pupillary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretinogram with negligible amplitudes in both eyes.'

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
IQCB1 IQ motif containing B1 Felis catus C2 NC_058376.1 (67431676..67368894) IQCB1 Homologene, Ensembl , NCBI gene


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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 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
962 Cone-rod dystrophy 2 IQCB1 deletion, small (<=20) Naturally occurring variant c.1282delCT p.(L428*) 2017 28322220

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:001675-61379: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2017 Oh, A., Pearce, J.W., Gandolfi, B., Creighton, E.K., Suedmeyer, W.K., Selig, M., Bosiack, A.P., Castaner, L.J., Whiting, R.E., Belknap, E.B., Lyons, L.A. :
Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes). Sci Rep 7:43918, 2017. Pubmed reference: 28322220. DOI: 10.1038/srep43918.

Edit History

  • Created by Bianca Waud on 24 Mar 2017