OMIA 001222-9685 : Leber congenital amaurosis in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|AIPL1||aryl hydrocarbon receptor interacting protein-like 1||Felis catus||E1||NC_018736.3 (932648..961674)||AIPL1||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.
|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|
|Persian||Leber congenital amaurosis||AIPL1||nonsense (stop-gain)||Felis catus 6.2||c.577C>T||p.(Arg193*)||2016||27030474|
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||Lyons, L.A., Creighton, E.K., Alhaddad, H., Beale, H.C., Grahn, R.A., Rah, H., Maggs, D.J., Helps, C.R., Gandolfi, B. :|
|Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. BMC Genomics 17:265, 2016. Pubmed reference: 27030474. DOI: 10.1186/s12864-016-2595-4.|
|2014||Alhaddad, H., Gandolfi, B., Grahn, R.A., Rah, H.C., Peterson, C.B., Maggs, D.J., Good, K.L., Pedersen, N.C., Lyons, L.A. :|
|Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats. Mamm Genome 25:354-62, 2014. Pubmed reference: 24777202. DOI: 10.1007/s00335-014-9517-z.|
|2012||Miyadera, K., Acland, G.M., Aguirre, G.D. :|
|Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.|
|2006||Rah, H., Maggs, DJ., Lyons, LA. :|
|Lack of genetic association among coat colors, progressive retinal atrophy and polycystic kidney disease in Persian cats. J Feline Med Surg 8:357-60, 2006. Pubmed reference: 16777456. DOI: 10.1016/j.jfms.2006.04.002.|
|2005||Rah, H., Maggs, DJ., Blankenship, TN., Narfstrom, K., Lyons, LA. :|
|Early-onset, autosomal recessive, progressive retinal atrophy in Persian cats. Invest Ophthalmol Vis Sci 46:1742-7, 2005. Pubmed reference: 15851577. DOI: 10.1167/iovs.04-1019.|
- Created by Frank Nicholas on 02 Apr 2016
- Changed by Frank Nicholas on 02 Apr 2016