Collie eye anomaly: a review
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F15%3A00452135" target="_blank" >RIV/67985904:_____/15:00452135 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Collie eye anomaly: a review
Original language description
Collie eye anomaly (CEA) is an inherited congenital visual impairment with heterogeneous signs. The first symptoms are already visible in the early embryo. Among the most affected breeds are Collies and Shetland Sheepdogs but the disease has spread to different breeds depending on the country of origin. Dogs affected with this disease share a 7.8 kb deletion in intron 4 of the NHEJ1 gene. Inheritance of this disease is autosomal recessive with incomplete penetrance. Thanks to a commercially available genetic test breeders can identify genetically affected recessive homozygotes and clinically healthy but genetic carriers of the mutation and thus select healthy parents for the next generation of dogs. However, the exact cause of the disease is not knownand it is not known whether the causative mutation influences the occurrence of some other diseases (e.g. immunodeficiencies).
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
GJ - Diseases and animal vermin, veterinary medicine
OECD FORD branch
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Result continuities
Project
<a href="/en/project/ED2.1.00%2F03.0124" target="_blank" >ED2.1.00/03.0124: ExAM Experimental Animal Models</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Veterinární medicína
ISSN
0375-8427
e-ISSN
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Volume of the periodical
60
Issue of the periodical within the volume
7
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
6
Pages from-to
345-350
UT code for WoS article
000360366900001
EID of the result in the Scopus database
2-s2.0-84940874628