OMIA 000526-9615 : Hypomyelination of the central nervous system in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
FNIP2 | folliculin interacting protein 2 | Canis lupus familiaris | 15 | NC_051819.1 (56573299..56706386) | FNIP2 | 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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Weimaraner | Hypomyelination of the central nervous system | FNIP2 | deletion, small (<=20) | c.880delA, XM_532705 | p.Ile294fsX296 | 2014 | 24272703 |
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.
2014 | Pemberton, T.J., Choi, S., Mayer, J.A., Li, F.Y., Gokey, N., Svaren, J., Safra, N., Bannasch, D.L., Sullivan, K., Breuhaus, B., Patel, P.I., Duncan, I.D. : | |
A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia 62:39-51, 2014. Pubmed reference: 24272703. DOI: 10.1002/glia.22582. | ||
2010 | Millán, Y., Mascort, J., Blanco, A., Costa, C., Masian, D., Guil-Luna, S., Pumarola, M., Martin de Las Mulas, J. : | |
Hypomyelination in three Weimaraner dogs. J Small Anim Pract 51:594-8, 2010. Pubmed reference: 20973788. DOI: 10.1111/j.1748-5827.2010.00997.x. | ||
1988 | Comont, P.S.V., Palmer, A.C., Williams, A.E. : | |
Weakness associated with spinal subpial myelopathy in a Weimaraner puppy. Journal of Small Animal Practice 29:367–372, 1988. | ||
1987 | Kornegay, JN., Goodwin, MA., Spyridakis, LK. : | |
Hypomyelination in Weimaraner dogs. Acta Neuropathol 72:394-401, 1987. Pubmed reference: 3577694. | ||
1978 | Amassian, V.E., Eberle, L., Rudell, A. : | |
Mode of cerebellar functioning in contact placing in kittens [proceedings]. J Physiol 284:179P-180P, 1978. Pubmed reference: 731520. | ||
Vandevelde, M., Braund, K.G., Walker, T.L., Kornegay, J.N. : | ||
Dysmyelination of the central nervous system in the Chow-Chow dog. Acta Neuropathol 42:211-5, 1978. Pubmed reference: 676669. |
Edit History
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Frank Nicholas on 27 Nov 2013