RGD Reference Report - A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness. - Rat Genome Database

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A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.

Authors: Gu, Yonghao  Wang, Lifeng  Zhou, Jie  Guo, Qun  Liu, Na  Ding, Zhenqiang  Li, Li  Liu, Xinping  An, Jing  Yan, Guolin  Yao, Libo  Zhang, Zuoming 
Citation: Gu Y, etal., Mol Vis. 2008 Jan 9;14:20-8.
RGD ID: 13782370
Pubmed: PMID:18246026   (View Abstract at PubMed)
PMCID: PMC2267729   (View Article at PubMed Central)


PURPOSE: 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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CACNA1FHumancongenital stationary night blindness  ISOCacna1f (Rattus norvegicus)DNA:mutation:cds: c.2941C>T (rat)RGD 
Cacna1fRatcongenital stationary night blindness  IAGP DNA:mutation:cds: c.2941C>T (rat)RGD 
Cacna1fMousecongenital stationary night blindness  ISOCacna1f (Rattus norvegicus)DNA:mutation:cds: c.2941C>T (rat)RGD 
Cacna1f csnbRatcongenital stationary night blindness  IAGP DNA:mutation:cds: c.2941C>T (rat)RGD 
SD-Cacna1f csnbRatcongenital stationary night blindness  IAGP DNA:mutation:cds: c.2941C>T (rat)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Cacna1fRatabnormal b-wave amplitude  IAGP DNA:mutation:cds: c.2941C>T ratRGD 
Cacna1f csnbRatabnormal b-wave amplitude  IAGP DNA:mutation:cds: c.2941C>T ratRGD 
SD-Cacna1f csnbRatabnormal b-wave amplitude  IAGP DNA:mutation:cds: c.2941C>T ratRGD 
Cacna1fRatabnormal cone electrophysiology  IAGP DNA:mutation:cds: c.2941C>T ratRGD 
Cacna1f csnbRatabnormal cone electrophysiology  IAGP DNA:mutation:cds: c.2941C>T ratRGD 
SD-Cacna1f csnbRatabnormal cone electrophysiology  IAGP DNA:mutation:cds: c.2941C>T ratRGD 
Cacna1fRatdecreased a-wave amplitude  IAGP DNA:mutation:cds: c.2941C>T ratRGD 
Cacna1f csnbRatdecreased a-wave amplitude  IAGP DNA:mutation:cds: c.2941C>T ratRGD 
SD-Cacna1f csnbRatdecreased a-wave amplitude  IAGP DNA:mutation:cds: c.2941C>T ratRGD 
Objects Annotated

Genes (Rattus norvegicus)
Cacna1f  (calcium voltage-gated channel subunit alpha1 F)
Cacna1f csnb  (calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant)

Genes (Mus musculus)
Cacna1f  (calcium channel, voltage-dependent, alpha 1F subunit)

Genes (Homo sapiens)
CACNA1F  (calcium voltage-gated channel subunit alpha1 F)

Strains
SD-Cacna1f csnb  (congenital stationary night blindness rat)


Additional Information