OMIA 000755-93934 : Osteopetrosis in Coturnix japonica
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||microphthalmia-associated transcription factor||Coturnix japonica||12||NC_029527.1 (12902806..12989046)||MITF||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|
|Osteopetrosis||MITF||deletion, small (<=20)||same MITF variant as for silver, as reported in 1998||2001||11169846|
|2001||Kawaguchi, N., Ono, T., Mochii, M., Noda, M. :|
|Spontaneous mutation in Mitf gene causes osteopetrosis in silver homozygote quail Developmental Dynamics 220:133-140, 2001. Pubmed reference: 11169846. DOI: 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1095>3.0.CO;2-7.|
- Created by Frank Nicholas on 30 Nov 2005
- Changed by Frank Nicholas on 08 Sep 2011
- Changed by Frank Nicholas on 12 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012