OMIA 002303-9685 : Cerebral dysgenesis, PEA15 related in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PEA15||phosphoprotein enriched in astrocytes 15||Felis catus||F1||NC_018739.3 (66775307..66767949)||PEA15||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|
|Cerebral dysgenesis||PEA15||deletion, small (<=20)||felCat9||F1||g.66768324delT||c.176delA||p.(Asn59fs)||Genomic position described by Graff et al. (2020) as felCat9 chrF1:66768323 GT -> G. cDNA and protein positions are based on XM_023247767.1 and XP_023103535.1, respectively.||2020||33290415|
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.
|2020||Graff, E.C., Cochran, J.N., Kaelin, C.B., Day, K., Gray-Edwards, H.L., Watanabe, R., Koehler, J.W., Falgoust, R.A., Prokop, J.W., Myers, R.M., Cox, N.R., Barsh, G.S., Martin, D.R. :|
|PEA15 loss of function and defective cerebral development in the domestic cat. PLoS Genet 16:e1008671, 2020. Pubmed reference: 33290415. DOI: 10.1371/journal.pgen.1008671.|
|Lyons, L.A. :|
|Precision medicine in cats-The right biomedical model may not be the mouse! PLoS Genet 16:e1009177, 2020. Pubmed reference: 33290388. DOI: 10.1371/journal.pgen.1009177.|
- Created by Imke Tammen2 on 17 Dec 2020
- Changed by Imke Tammen2 on 17 Dec 2020