OMIA 001918-9615 : Progressive retinal atrophy, type 3, FAM161A-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FAM161A||family with sequence similarity 161, member A||Canis lupus familiaris||10||NC_006592.2 (64995951..64966161)||FAM161A||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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Tibetan Spaniel Tibetan Terrier||Progressive retinal atrophy, type 3, FAM161A-related||FAM161A||insertion, gross (>20)||CanFam2.0||10||A ~230bp insertion containing a 132bp short interspersed nuclear element (SINE), near the splice acceptor site of exon 5 200922: g. info moved here (g.64974130) until can be standardised||2014||24705771|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2016||Downs, L.M., Aguirre, G.D. :|
|FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol 854:201-7, 2016. Pubmed reference: 26427412. DOI: 10.1007/978-3-319-17121-0_27.|
|2014||Downs, L.M., Mellersh, C.S. :|
|An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers. PLoS One 9:e93990, 2014. Pubmed reference: 24705771. DOI: 10.1371/journal.pone.0093990.|
|2004||Ketteritzsch, K., Hamann, H., Brahm, R., Grussendorf, H., Rosenhagen, CU., Distl, O. :|
|Genetic analysis of presumed inherited eye diseases in Tibetan Terriers. Vet J 168:151-9, 2004. Pubmed reference: 15301758. DOI: 10.1016/S1090-0233(03)00143-6.|
|1994||Bjerkas, E., Narfstrom, K. :|
|Progressive Retinal Atrophy in the Tibetan Spaniel in Norway and Sweden Veterinary Record 134:377-379, 1994. Pubmed reference: 8009801.|
|1988||Millichamp, N.J., Curtis, R., Barnett, K.C. :|
|Progressive retinal atrophy in Tibetan terriers. J Am Vet Med Assoc 192:769-76, 1988. Pubmed reference: 3356591.|
|1978||Barnett, K.C., Curtis, R. :|
|Lens luxation and progressive retinal atrophy in the Tibetan Terrier Veterinary Record :160 only, 1978. Pubmed reference: 308725.|
- Created by Frank Nicholas on 09 Apr 2014
- Changed by Frank Nicholas on 09 Apr 2014