OMIA 000017-9986 : Adrenal hyperplasia, congenital in Oryctolagus cuniculus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CYP11A1||cytochrome P450, family 11, subfamily A, polypeptide 1||Oryctolagus cuniculus||-||no genomic information (-..-)||CYP11A1||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|
|629||Adrenal hyperplasia, congenital||CYP11A1||deletion, gross (>20)||Naturally occurring variant||"a large deletion mutation in the P450scc gene"||1993||7682938|
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.
|1994||Iwamoto, K., Yang, X.M., Rogerson, F.M., Mason, J.I., Artwohl, J., Bolin, K., Klimah, P., Swart, P., Pang, S.Y. :|
|Evidence of a steroidogenic enzyme gene dose effect on adrenal gene expression in hereditary rabbit congenital adrenal hyperplasia Pediatric Research 36:660-666, 1994. Pubmed reference: 7877888.|
|1993||Yang, X.M., Iwamoto, K., Wang, M., Artwohl, J., Mason, J.I., Pang, S.Y. :|
|Inherited Congenital Adrenal Hyperplasia in the Rabbit Is Caused by a Deletion in the Gene Encoding Cytochrome-P450 Cholesterol Side-Chain Cleavage Enzyme Endocrinology 132:1977-1982, 1993. Pubmed reference: 7682938.|
|1992||Pang, S., Yang, X., Wang, M., Tissot, R., Nino, M., Manaligod, J., Bullock. L.P., Mason, J.I. :|
|Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression Endocrinology 131:181-186, 1992. Pubmed reference: 1611996.|
|1978||Fox, R.R., Crary, D.D. :|
|Genetics and pathology of hereditary adrenal hyperplasia in the rabbit Journal of Heredity 69:251-254, 1978. Pubmed reference: 731013.|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 08 Sep 2011
- Changed by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 22 Jan 2012