[1] A mouse strain called nob (no b-wave) carries a spontaneous mutation leading to a frameshift in this gene.

[9]60506236690ENSG00000188937ENSMUSG00000051228Q9GZU5P83503NM_022567NM_001378477NM_173415NP_072089NP_001365406NP_775591The first evidence of the existence of mutation in NYX gene, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness was provided by Richard G. Weleber at the University of Alberta in 2000.

[3] These proteins, are involved in several functions such as cell signalling, growth control, and formation of the extracellular matrix.

[3] LRR domains are involved in the protein–protein interaction in small leucine rich repeat proteoglycan family members.

Congenital stationary night blindness in humans appears when a mutation in the LRR domains of nyctalopin occurs.

[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 truncate the protein.