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Congenital stationary night blindness (CSNB) can be inherited in an X-linked, autosomal dominant, or autosomal recessive pattern, depending on the genes involved. Two forms of CSNB can also affect horses, one linked to the leopard complex of equine coat colors and the other found in certain horse breeds. Both are autosomal recessives.
Congenital stationary night blindness has been linked with the leopard complex since the 1970s. [14] The presence of CSNB in non-leopard breeds and horses suggested that the two conditions might be located on close, but separate genes.
Nyctalopia (/ ˌ n ɪ k t ə ˈ l oʊ p i ə /; from Ancient Greek νύκτ-(núkt-) ' night ' ἀλαός (alaós) ' blind, invisible ' and ὄψ (óps) ' eye '), [1] also called night blindness, is a condition making it difficult or impossible to see in relatively low light. It is a symptom of several eye diseases.
The complete form of congenital stationary night blindness is due to the absence of nyctalopin. [16] This absence is due to a mutation involving an 85 base pair deletion. [ 17 ] In humans, more than 30 mutations are found in the NYX gene and most of them have an impact either on the tertiary structure of the LRR domains of nyctalopin or to ...
Twilight, the Thoroughbred mare who was the first horse to have its genome fully sequenced. The horse genome was first sequenced in 2006. The Horse Genome Project mapped 2.7 billion DNA base pairs, [1] and released the full map in 2009. [2] The horse genome is larger than the dog genome, but smaller than the human genome or the bovine genome. [2]
Horses heterozygous for the Ile118Lys mutation on the equine EDNRB gene—carriers of lethal white syndrome—usually exhibit a white-spotting pattern called "frame", or "frame overo". [5] [7] [9] [13] Frame is characterized by jagged, sharply defined, horizontally oriented white patches that run along the horse's neck, shoulder, flank, and ...
Individuals with this condition usually start showing signs of nyctalopia (also known as night-blindness) during their early childhood, increase in sensitivity to blue light, progressive decrease of visual acuity in both eyes, cataract, peripheral vision loss, vitreous liquefaction and detachment, clumped pigment deposits of the fundus, either peripheral or central retinoschisis, cystic ...
Congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1 [1] Oguchi disease has an autosomal recessive pattern of inheritance. Specialty: