OMIA 000755-93934 : Osteopetrosis in Coturnix japonica

In other species: cattle , rabbit , horse , ass

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 259700 (trait) , 259710 (trait) , 259720 (trait) , 259730 (trait) , 600329 (trait)

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.

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 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

Reference


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