Document Detail

[In Process Citation].
MedLine Citation:
PMID:  23531944     Owner:  NLM     Status:  In-Data-Review    
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.
Blatter; Haase; Gerber; Poncet; Leeb; Rieder; Henke; Janett; Burger
Publication Detail:
Type:  English Abstract; Journal Article    
Journal Detail:
Title:  Schweizer Archiv für Tierheilkunde     Volume:  155     ISSN:  0036-7281     ISO Abbreviation:  Schweiz. Arch. Tierheilkd.     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-03-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0424247     Medline TA:  Schweiz Arch Tierheilkd     Country:  Switzerland    
Other Details:
Languages:  ger     Pagination:  229-32     Citation Subset:  IM    
Institut Suisse de Médicine Equine, ALP-Haras und Universität Bern und Schweizerisches Nationalgestüt, ALP-Haras, Avenches.
Vernacular Title:
Klinische und genetische Befunde bei einem männlichen Freiberger mit der neuen Fellfarbe Macchiato.
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