Incontinentia pigmenti – IP
Code: P655
Short description
Incontinentia Pigmenti (IP) in horses is a skin and tissue disorder.
General information
Incontinentia Pigmenti (IP) in horses is a skin and tissue disorder. It is linked to a semi-dominant mutation in a gene that is involved in the development of the ectoderm, the outermost layer of cells in the embryo, which gives rise to skin, hair, hoof walls (the equine equivalent of nails), and other skin-related structures. This gene is called the IKBKG gene (“inhibitor of nuclear factor kappa B kinase regulatory subunit gamma”). The mutation in this gene is homozygous lethal and located on the X-chromosome. This means that IP symptoms can only be seen in carrier female individuals while carrier males and affected females die during development in utero. It is observed in the American Quarter Horse and Warmblood breeds.
Specifications
| Breeds | |
|---|---|
| Gene | IKBKG |
| Chromosome | X |
| Mutation | c.202C>T |
| Organ | Integumentary System |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Incomplete Dominant |
| Also known as | IP |
Clinical features
IP can lead to the development of skin lesions that later progress into wart-like growths and areas of hair loss. This occurs randomly due to a mix of celpopulations with normal and abnormal IKBKG function, leading to streaks of varying coat coloration from birth, resembling a brindled pattern. In some cases hair regrowth occurs, with the hair having a woolly texture. In addition, it is possible that the affected carrier mares have abnormalities in teeth, hooves, and eyes.
References
Pubmed ID: 24324710
Year published: 2013
Omia ID: 1899
Omia variant ID:
Turnaround information
- 15 working days