Clinical evaluation of the new coat colour macchiato in a male Franches-Montagnes horse

Blatter, Marlis; Haase, Bianca; Gerber, Vinzenz; Poncet, P.-A.; Leeb, Tosso; Rieder, S.; Henke, Diana; Janett, F.; Burger, Dominik (2013). Clinical evaluation of the new coat colour macchiato in a male Franches-Montagnes horse. Schweizer Archiv für Tierheilkunde, 155(4), pp. 229-232. Huber 10.1024/0036-7281/a000451

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In April 2008 a Franches-Montagnes colt was born with an unusual coat colour phenotype which had never been observed in that population before. The foal showed extended white markings on body and legs, a white head and blue eyes. As both parents have an unremarkable bay coat colour phenotype, a de novo mutation was expected in the offspring and a candidate gene approach revealed a spontaneous mutation in the microphthalmia associated transcription factor gene (MITF). A detailed clinical examination in 2010 indicated an impaired hearing capacity. As in the American Paint Horse large white facial markings in combination with blue eyes are associated with deafness, the hearing capacity of the stallion was closer examined performing brainstem auditory-evoked responses (BAER). The BAER confirmed bilateral deafness in the Franches-Montagnes colt. It is assumed that the deafness is caused by a melanocyte deficiency caused by the MITF gene mutation. Unfortunately, due to castration of the horse, the causal association between the mutation in the MITF gene and clinical findings cannot be confirmed by experimental matings.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > NeuroCenter
05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > Equine Clinic
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > DKV - Clinical Neurology
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Blatter, Marlis; Haase, Bianca; Gerber, Vinzenz; Leeb, Tosso; Henke, Diana and Burger, Dominik

Subjects:

600 Technology > 630 Agriculture
500 Science > 590 Animals (Zoology)

ISSN:

0036-7281

Publisher:

Huber

Language:

German

Submitter:

Susanne Portner

Date Deposited:

15 Aug 2014 16:34

Last Modified:

12 Feb 2015 13:52

Publisher DOI:

10.1024/0036-7281/a000451

PubMed ID:

23531944

Uncontrolled Keywords:

horse, genetic mutation, MITF gene, coat colour dilution, deafness

BORIS DOI:

10.7892/boris.43879

URI:

https://boris.unibe.ch/id/eprint/43879

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