OMIA 001551-9685 : Brachycephaly in Felis catus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ALX1 | ALX homeobox 1 | Felis catus | B4 | NC_058374.1 (107851193..107872185) | ALX1 | Homologene, Ensembl, NCBI gene |
Variants
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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
550 | Burmese | Brachycephaly | ALX1 | deletion, small (<=20) | Naturally occurring variant | Felis_catus_9.0 | B4 | g.110088245_110088256del | c.497_508del | p.(A166_T169del) | XM_003989090.4; XP_003989139.1; published as c.496delCTCTCAGGACTG | 2016 | 26610632 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. |
References
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.
2021 | Alhaddad, H., Abdi, M., Lyons, L.A. : | |
Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array. PLoS One 16:e0247092, 2021. Pubmed reference: 33630878. DOI: 10.1371/journal.pone.0247092. | ||
Geiger, M., Schoenebeck, J.J., Schneider, R.A., Schmidt, M.J., Fischer, M.S., Sánchez-Villagra, M.R. : | ||
Exceptional changes in skeletal anatomy under domestication: The case of brachycephaly. Integr Org Biol 3:obab023, 2021. Pubmed reference: 34409262. DOI: 10.1093/iob/obab023. | ||
2016 | Anon. : | |
Brachycephaly: an issue for cats as well as dogs. Vet Rec 179:371, 2016. Pubmed reference: 27738208. DOI: 10.1136/vr.i5507. | ||
Bertolini, F., Gandolfi, B., Kim, E.S., Haase, B., Lyons, L.A., Rothschild, M.F. : | ||
Evidence of selection signatures that shape the Persian cat breed. Mamm Genome 27:144-55, 2016. Pubmed reference: 26956354. DOI: 10.1007/s00335-016-9623-1. | ||
Bertolini, F., Gandolfi, B., Kim, E.S., Haase, B., Lyons, L.A., Rothschild, M.F. : | ||
Erratum to: Evidence of selection signatures that shape the Persian cat breed. Mamm Genome 27:156-157, 2016. Pubmed reference: 27007993. DOI: 10.1007/s00335-016-9626-y. | ||
Lyons, L.A., Erdman, C.A., Grahn, R.A., Hamilton, M.J., Carter, M.J., Helps, C.R., Alhaddad, H., Gandolfi, B. : | ||
Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol 409:451-8, 2016. Pubmed reference: 26610632. DOI: 10.1016/j.ydbio.2015.11.015. | ||
2010 | Oechtering, G.U., Schlüter, C., Lippert, J.P. : | |
[Brachycephaly in dog and cat: a "human induced" obstruction of the upper airways]. Pneumologie 64:450-2, 2010. Pubmed reference: 20632241. DOI: 10.1055/s-0030-1255513. | ||
2003 | Breit, S., Künzel, W., Oppel, M. : | |
The course of the nasolacrimal duct in brachycephalic cats. Anat Histol Embryol 32:224-7, 2003. Pubmed reference: 12919073. | ||
1986 | Noden, D.M., Evans, H.E. : | |
Inherited homeotic midfacial malformations in Burmese cats. J Craniofac Genet Dev Biol Suppl 2:249-66, 1986. Pubmed reference: 2878018. | ||
Sponenberg, D.P., Graf-Webster, E. : | ||
Hereditary meningoencephalocele in Burmese cats. J Hered 77:60, 1986. Pubmed reference: 2937834. |
Edit History
- Created by Frank Nicholas on 02 Apr 2016
- Changed by Frank Nicholas on 02 Apr 2016
- Changed by Frank Nicholas on 19 May 2016
- Changed by Frank Nicholas on 11 Jun 2020