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|
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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.
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|
|531||Weimaraner||Hypomyelination of the central nervous system||FNIP2||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||15||g.55928287del||c.1078del||p.(I360Lfs*3)||XM_005629382.3; XP_005629439.1; published as CanFam2:58974928delA, XM_532705:c.880delA and p.(I294fs*296) - coordinates in the table have been updated to a recent reference genome and / or transcript and HGVS nomenclature||2014||24272703|
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.|
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Frank Nicholas on 27 Nov 2013