OMIA 002533-9685 : Osteogenesis imperfecta, CREB3L1-elated in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CREB3L1||cAMP responsive element binding protein 3-like 1||Felis catus||D1||NC_058377.1 (98361436..98396751)||CREB3L1||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|
|1428||Domestic Shorthair||Osteogenesis imperfecta||CREB3L1||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||D1||g.100436508_100436509del||c.370_371del||p.(C124Lfs)||XM_003993204.4; XP_003993253.1; published as c.370_371delTG||2022||35168412|
|2022||Takanosu, M., Kagawa, Y. :|
|Severe osteogenesis imperfecta caused by CREB3L1 mutation in a cat. J Vet Diagn Invest :10406387221081227, 2022. Pubmed reference: 35168412. DOI: 10.1177/10406387221081227.|
- Created by Frank Nicholas on 24 Feb 2022
- Changed by Frank Nicholas on 24 Feb 2022
- Changed by Frank Nicholas on 25 Feb 2022