OMIA 001661-9685 : Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CYP11B1||Felis catus||-||no genomic information (-..-)||CYP11B1||Ensembl|
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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|
|Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency||CYP11B1||missense||G>A||2012||22827537|
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.
|2012||Owens, S.L., Downey, M.E., Pressler, B.M., Birkenheuer, A.J., Chandler, D.W., Scott-Moncrieff, J.C. :|
|Congenital adrenal hyperplasia associated with mutation in an 11β-hydroxylase-like gene in a cat. J Vet Intern Med 26:1221-6, 2012. Pubmed reference: 22827537. DOI: 10.1111/j.1939-1676.2012.00971.x.|
|2004||Knighton, E.L. :|
|Congenital adrenal hyperplasia secondary to 11beta-hydroxylase deficiency in a domestic cat. J Am Vet Med Assoc 225:238-41, 231, 2004. Pubmed reference: 15323380.|
- Created by Frank Nicholas on 26 Oct 2011
- Changed by Frank Nicholas on 26 Oct 2011
- Changed by Frank Nicholas on 17 May 2013