{"id":1453,"date":"2023-04-03T07:52:58","date_gmt":"2023-04-03T07:52:58","guid":{"rendered":"https:\/\/crs.izoo.krakow.pl\/wiki\/?post_type=docs&p=1453"},"modified":"2025-02-13T06:58:29","modified_gmt":"2025-02-13T06:58:29","slug":"pigmentary-degeneration-of-the-retina-blind_rp1","status":"publish","type":"docs","link":"https:\/\/crs.izoo.krakow.pl\/wiki\/en\/docs\/pigmentary-degeneration-of-the-retina-blind_rp1\/","title":{"rendered":"BLIND_RP1 – Retinal pigmentary degeneration"},"content":{"rendered":"\n

Retinal pigmentary degeneration is characterized by the progressive death of photoreceptor cells. The disorder is manifested by degeneration of rods and cones in Normande Cattle and in most European breeds: Holstein-Friesian, Angus, Belgian Blue, Charolais, Maine-Anjou, Red Angus. The consequence of this process is lack of night vision and eventually total blindness.<\/p>\n\n\n\n

Hereditary retinal degenerative disease is caused by a mutation in the RP1 gene region. An insertion of a base in the DNA sequence results in the termination of a protein with an increased number of amino acids. This results in a protein of abnormal length that plays an essential role in the construction of photoreceptors in the eye.<\/p>\n\n\n\n

BLIND is an autosomal recessive disease. This means that only individuals with two mutant alleles of the gene exhibit symptoms of the disorder. Carriers with a single altered allele do not show symptoms of the disease however, they may pass the mutation to their offspring.<\/p>\n\n\n\n

Result<\/strong><\/td>Interpretation<\/strong><\/td><\/tr>
RP1S<\/td>SICK<\/td><\/tr>
RP1C<\/td>CARRIER<\/td><\/tr>
RP1F<\/td>FREE<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

REFERENCES<\/h2>\n\n\n\n
    \n
  1. Michot P, Chahory S, Marete A, Grohs C, Dagios D, Donzel E, Aboukadiri A, Deloche MC, Allais-Bonnet A, Chambrial M, Barbey S, Genestout L, Boussaha M, Danchin-Burge C, Fritz S, Boichard D & Capitan A. (2016). A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds<\/em>. Genet Sel Evol 10;48(1):56.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

    Retinal pigmentary degeneration is characterized by the progressive death of photoreceptor cells. The disorder is manifested by degeneration of rods and cones in Normande Cattle and in most European breeds: […]<\/p>\n","protected":false},"author":8,"featured_media":0,"parent":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[75],"doc_tag":[85,88],"class_list":["post-1453","docs","type-docs","status-publish","hentry","doc_category-list-of-genetic-tratis","doc_tag-genetic-trait","doc_tag-snp"],"_links":{"self":[{"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/docs\/1453","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/docs"}],"about":[{"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/types\/docs"}],"author":[{"embeddable":true,"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/comments?post=1453"}],"version-history":[{"count":3,"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/docs\/1453\/revisions"}],"predecessor-version":[{"id":1796,"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/docs\/1453\/revisions\/1796"}],"wp:attachment":[{"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/media?parent=1453"}],"wp:term":[{"taxonomy":"doc_category","embeddable":true,"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/doc_category?post=1453"},{"taxonomy":"doc_tag","embeddable":true,"href":"https:\/\/crs.izoo.krakow.pl\/wiki\/wp-json\/wp\/v2\/doc_tag?post=1453"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}