OMIA:001737-9838 : Coat colour, white spotting, KIT-related in Camelus dromedarius (Arabian camel)

In other species: dog , domestic cat , ass (donkey) , taurine cattle , goat

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 172800 (trait) , 164920 (gene)

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: Variable degree of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of skin melanocytes ("leucism, leucistic"), not by failure in the biochemical reactions required for pigment synthesis.

Molecular basis: Whole-genome sequencing of "One spotted and eight solid camels" enabled Holl et al. (2017) to report that the "spotted camel was heterozygous for a frameshift deletion in KIT (c.1842delG, named KITW1 for White spotting 1), whereas all other camels were wild-type (KIT+/KIT+). . . . The frameshift results in a premature stop codon five amino acids downstream, thus terminating KIT at the tyrosine kinase domain. . . . p.M614IfsX5" These authors also reported that "No additional mutations unique to the spotted camel were detected in the EDNRB, EDN3, SOX10, KITLG, PDGFRA, MITF, and PAX3 candidate white spotting genes". They also reported that a different type of white spotting is likely to be due to another variant.

Clinical features: Holl et al. (2017): "The US spotted camels were visibly smaller in overall body size than the solid camels, though no quantitative measures were assessed. Two of the owners mentioned that spotted camels are known for being roughly 30 cm shorter at maturity."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog Camelus dromedarius 1 NC_087436.1 (85778550..85701165) KIT 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 Year Published PubMed ID(s) Acknowledgements
566 Coat colour, white spotting, KIT-related KIT deletion, small (<=20) Naturally occurring variant c.1842delG p.(M614Ifs*5) 2017 28282952

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:001737-9838: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2017 Holl, H., Isaza, R., Mohamoud, Y., Ahmed, A., Almathen, F., Youcef, C., Gaouar, S., Antczak, D.F., Brooks, S. :
A Frameshift Mutation in KIT is Associated with  White Spotting in the Arabian Camel. Genes (Basel) 8:102, 2017. Pubmed reference: 28282952. DOI: 10.3390/genes8030102.

Edit History

  • Created by Frank Nicholas on 14 Mar 2017
  • Changed by Frank Nicholas on 14 Mar 2017
  • Changed by Frank Nicholas on 17 Mar 2017