OMIA 001471-9615 : Neonatal encephalopathy with seizures in Canis lupus familiaris |
Yu et al. (2020): "Magnetic resonance imaging showed reduced whole-brain size, dilated ventricles, developmental abnormalities of the white matter of the cerebrum, white matter signal abnormalities in the occipital lobe, and abnormal morphology of the cerebellum. Histopathology included previously unrecognized irregular neuronal migration in the subventricular zone around the lateral ventricles in the frontal lobe and white matter rarefaction especially at the level of the occipital lobe in the cerebrum ..,."
Prevalence: Of 1038 standard poodles genotyped, 36% were carriers and 2.7% were affected (Chen et al., 2008). Control: Relatives of affected pups should be tested to identify carriers. Matings of carriers is discouraged, although breeding them to noncarriers will avoid production of affected pups. Genetic testing: A test is available. Breed: Standard Poodle. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ATF2 | activating transcription factor 2 | Canis lupus familiaris | 36 | NC_051840.1 (19255411..19170174) | ATF2 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
65 | Standard Poodle | Neonatal encephalopathy with seizures | ATF2 | missense | Naturally occurring variant | CanFam3.1 | 36 | g.19078954A>C | c.152T>G | p.(M51R) | 2008 | 18074159 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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.
2020 | Yu, Y., Hasegawa, D., Chambers, J.K., Kojima, K., Asada, R., Johnson, G.S., Uchida, K. : | |
Magnetic resonance imaging and histopathologic findings from a standard poodle with neonatal encephalopathy with seizures. Front Vet Sci 7:578936, 2020. Pubmed reference: 33244473. DOI: 10.3389/fvets.2020.578936. | ||
2008 | Chen, X., Johnson, G.S., Schnabel, R.D., Taylor, J.F., Johnson, G.C., Parker, H.G., Patterson, E.E., Katz, M.L., Awano, T., Khan, S., O'Brien, D.P. : | |
A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics 9:41-9, 2008. Pubmed reference: 18074159. DOI: 10.1007/s10048-007-0112-2. |
Edit History
- Created by Frank Nicholas on 12 Jul 2009
- Changed by Vicki Meyers-Wallen on 18 Sep 2011
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Tosso Leeb on 29 May 2013
- Changed by Imke Tammen2 on 22 May 2022