title: A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.
abstract: OBJECTIVE
  To identify the gene mutation responsible for a previously described rat model of X-linked congenital stationary night blindness (CSNB).
  
  
  METHODS
  Rat orthologous genes for Nyx and Cacna1f were isolated from retina through rapid amplification the cDNA ends (RACE) and examined for mutations. Electroretinograms were used to identify affected animals.
  
  
  RESULTS
  The rat Nyx cDNA spans 1,971 nucleotides and encodes a protein of 476 amino acids (GenBank: DQ393414). The rat Cacna1f cDNA spans 6,076 nucleotides and encodes a protein of 1,980 amino acids (GenBank: DQ393415). A c.2941C>T (p.R981Stop) mutation in Cacna1f was found in affected rats. Immunochemistry study showed labeling for rod bipolar and horizontal cells were reduced in affect retinas. For affected rats, b-wave and oscillatory potentials of scotopic ERG were absent, and b-wave of photopic ERG was clear but obviously reduced.
  
  
  CONCLUSIONS
  The Cacna1f mutation identified in the rat model of CSNB was predicted to lead to a protein product that is shortened by 999 amino acids, indicating that this is a model for the incomplete subtype of human X-linked CSNB (CSNB2). This rat model will be useful for defining the pathophysiological properties of this human disorder.
authors.affiliation: Department of Clinical Aerospace Medicine, Fourth Military Medical University, Xi'an, China.
authors.forename: Yonghao
authors.initials: Y
authors.lastname: Gu
authors.forename: Lifeng
authors.initials: L
authors.lastname: Wang
authors.forename: Jie
authors.initials: J
authors.lastname: Zhou
authors.forename: Qun
authors.initials: Q
authors.lastname: Guo
authors.forename: Na
authors.initials: N
authors.lastname: Liu
authors.forename: Zhenqiang
authors.initials: Z
authors.lastname: Ding
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.forename: Xinping
authors.initials: X
authors.lastname: Liu
authors.forename: Jing
authors.initials: J
authors.lastname: An
authors.forename: Guolin
authors.initials: G
authors.lastname: Yan
authors.forename: Libo
authors.initials: L
authors.lastname: Yao
authors.forename: Zuoming
authors.initials: Z
authors.lastname: Zhang
mesh_terms: D000221:Adaptation, Ocular; D000595:Amino Acid Sequence; D000818:Animals; D015220:Calcium Channels / Q000235:genetics*; D003596:Cytosine; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000302:isolation & purification; D003623:Dark Adaptation; D004195:Disease Models, Animal; D004596:Electroretinography; D007150:Immunohistochemistry; D009154:Mutation; D009755:Night Blindness / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011509:Proteoglycans / Q000235:genetics; D051381:Rats / Q000235:genetics*; D012160:Retina / Q000473:pathology; D051245:Retinal Bipolar Cells / Q000473:pathology; D051248:Retinal Horizontal Cells / Q000473:pathology; D013941:Thymine
chemical_list: C527361:Cacna1f protein, rat; D015220:Calcium Channels; D018076:DNA, Complementary; C527362:Nyx protein, rat; D011509:Proteoglycans; D003596:Cytosine; D013941:Thymine