OMIA 002315-9615 : Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|POU1F1||POU class 1 homeobox 1||Canis lupus familiaris||31||NC_051835.1 (752910..771826)||POU1F1||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|
|Karelian bear dog||Pituitary dwarfism||POU1F1||splicing||CanFam3.1||31||g.784534C>A||c.605-3C>A||Kyöstilä et al. (2021) "the NNSPLICE 0.9 splice prediction tool (Reese et al. 1997) predicted this variant to weaken the splice acceptor of POU1F1 intron 4 from a score of 0.97 to 0.67."||2021||33550451|
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||Kyöstilä, K., Niskanen, J.E., Arumilli, M., Donner, J., Hytönen, M.K., Lohi, H. :|
|Intronic variant in POU1F1 associated with canine pituitary dwarfism. Hum Genet :, 2021. Pubmed reference: 33550451. DOI: 10.1007/s00439-021-02259-2.|
|1977||Andresen, E., Willeberg, P. :|
|Pituitary dwarfism in Carelian bear-dogs: evidence of simple, autosomal recessive inheritance. Hereditas 84:232-4, 1977. Pubmed reference: 838602.|
- Created by Imke Tammen2 on 05 Mar 2021
- Changed by Imke Tammen2 on 05 Mar 2021