OMIA:000755-93934 : Osteopetrosis in Coturnix japonica
In other species: cattle , rabbit , horse , ass
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 259700 (trait) , 259710 (trait) , 259720 (trait) , 259730 (trait) , 600329 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2001
Molecular basis: Kawaguchi et al. (2001) reported that the same MITF mutation that causes silver feathering in quail also causes osteopetrosis.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||microphthalmia-associated transcription factor||Coturnix japonica||12||NC_029527.1 (12902808..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.
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|
|505||Osteopetrosis||MITF||deletion, small (<=20)||Naturally occurring variant||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
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- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012