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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.
A white horse has mostly pink skin under its hair coat, and may have brown, blue, or hazel eyes. "True white" horses, especially those that carry one of the dominant white (W) genes, are rare. Most horses that are commonly referred to as "white" are actually "gray" horses whose hair coats are completely white. Gray horses may be born of any ...
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 ...
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 ...
The chestnut, also known as a night eye, [1] is a callosity on the body of a horse or other equine, found on the inner side of the leg above the knee on the foreleg and, if present, below the hock on the hind leg. It is believed to be a vestigial toe, and along with the ergot form the three toes of some other extinct Equidae.
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]