OMIA:000755-93934 : Osteopetrosis in Coturnix japonica (Japanese quail) |
In other species: ass (donkey) , horse , taurine cattle , rabbit , yellow-crowned parrot
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 259700 (trait) , 259710 (trait) , 259720 (trait) , 259730 (trait) , 600329 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: 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.
Associated gene:
| 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 |
Variants
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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 | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000755-93934: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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.
| 2010 | Minvielle, F., Bed'hom, B., Coville, JL., Ito, S., Inoue-Murayama, M., Gourichon, D. : |
| The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with the "blue" chicken plumage. BMC Genet 11:15, 2010. Pubmed reference: 20184729. DOI: 10.1186/1471-2156-11-15. | |
| 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. |
Edit History
- 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