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 , 259710 , 259720 , 259730 , 600329

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 (12902806..12989046) MITF Homologene, Ensembl, NCBI gene

Variants

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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

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