OMIA 000303-9031 : Dwarfism, autosomal in Gallus gallus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|C1H12ORF23||chromosome 1 open reading frame, human C12orf23||Gallus gallus||1||NC_052532.1 (53694755..53681908)||C1H12ORF23||Homologene, Ensembl, NCBI gene|
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|
|1047||White Leghorn||Dwarfism, autosomal||C1H12ORF23||nonsense (stop-gain)||Naturally occurring variant||GRCg6a||1||g.53638233C>T||c.433G>A||p.(W59*)||Wu et al. (2018): "NM_001006244.1:c.433G > A . . . NP_001006244.1:p.(Trp59∗)"||2018||29930570|
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.
|2018||Wu, Z., Derks, M.F.L., Dibbits, B., Megens, H.J., Groenen, M.A.M., Crooijmans, R.P.M.A. :|
|A novel loss-of-function variant in transmembrane protein 263 (TMEM263) of autosomal dwarfism in chicken. Front Genet 9:193, 2018. Pubmed reference: 29930570. DOI: 10.3389/fgene.2018.00193.|
|2000||Cole, RK. :|
|An autosomal dwarfism in the domestic fowl. Poult Sci 79:1507-16, 2000. Pubmed reference: 11092317.|
|1998||Ruyter-Spira, C.P., Degroof, A.J.C., Vanderpeel, J.J., Herbergs, J., Masabanda, J., Fries, R., Groenen, M.A.M. :|
|The HMGI-C gene is a likely candidate for the autosomal dwarf locus in the chicken Journal of Heredity 89:295-300, 1998. Pubmed reference: 9703685.|
|Ruyter-Spira, C.P., Herbergs, J., Limpens, E., Marsh, J.A., Vanderpoel, J.J., Ayoubi, T.A.Y., Groenen, M.A.M. :|
|Nucleotide sequence of the chicken HMGI-C cDNA and expression of the HMGI-C and IGF1 genes in autosomal dwarf chicken embryos BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 1399:83-87, 1998.|
|1989||Lam, S.K., Harvey, S., Scanes, C.G. :|
|Thyroid Function in Sex-Linked and Autosomal Dwarf Chickens General and Comparative Endocrinology 76:200-204, 1989. Pubmed reference: 2574126.|
|1985||Huybrechts, L.M., King, D.B., Lauterio, T.J., Marsh, J., Scanes, C.G. :|
|Plasma concentrations of somatomedin-C in hypophysectomized, dwarf and intact growing domestic fowl as determined by heterologous radioimmunoassay. J Endocrinol 104:233-9, 1985. Pubmed reference: 4038508.|
|1983||Scanes, C.G., Marsh, J., Decuypere, E., Rudas, P. :|
|Abnormalities in the plasma concentrations of thyroxine, tri-iodothyronine and growth hormone in sex-linked dwarf and autosomal dwarf White Leghorn domestic fowl (Gallus domesticus). J Endocrinol 97:127-35, 1983. Pubmed reference: 6842122.|
|1973||Cole, R.K., Hutt, F.B. :|
|Selection and heterosis in Cornell White Leghorns : A review, with special consideration of interstrain hybrids Animal Breeding Abstracts 41:103-118, 1973.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 21 Mar 2019