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

Gu Y, Wang L, Zhou J, Guo Q, Liu N, Ding Z, Li L, Liu X, An J, Yan G, Yao L, Zhang Z - Mol. Vis. (2008)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Aerospace Medicine, Fourth Military Medical University, Xi'an, China.

ABSTRACT

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.

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Dark-adapted electroretinograms. A: Comparison of dark-adapted ERGs recorded from control and affected rats. B: Amplitude of dark-adapted a-wave (square) and b-wave (circle) for control (filled) and affected rats (open). Data points indicate the mean±SEM response from ten 10-week-old rats. C: Peak time of dark-adapted a-wave (square) and b-wave (circle) for control (filled) and affected rats (open). Data points indicate the meanpom SEM response from ten 10-week-old rats.
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f1: Dark-adapted electroretinograms. A: Comparison of dark-adapted ERGs recorded from control and affected rats. B: Amplitude of dark-adapted a-wave (square) and b-wave (circle) for control (filled) and affected rats (open). Data points indicate the mean±SEM response from ten 10-week-old rats. C: Peak time of dark-adapted a-wave (square) and b-wave (circle) for control (filled) and affected rats (open). Data points indicate the meanpom SEM response from ten 10-week-old rats.

Mentions: Figure 1A presents ERGs recorded from representative control (left) and mutant (right) animals under dark-adapted conditions. Under dark-adapted conditions, ERGs of mutant rats lacked distinct b-waves or oscillatory potentials throughout the range of stimulus intensities. In response to high stimulus intensities, mutant rats generated a clear a-wave. In comparison to control responses, a-waves of mutant rats were significantly reduced in amplitude. Figure 1B,C show intensity-response functions for dark-adapted a- and b-waves of ten control and ten affected rats.


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

Gu Y, Wang L, Zhou J, Guo Q, Liu N, Ding Z, Li L, Liu X, An J, Yan G, Yao L, Zhang Z - Mol. Vis. (2008)

Dark-adapted electroretinograms. A: Comparison of dark-adapted ERGs recorded from control and affected rats. B: Amplitude of dark-adapted a-wave (square) and b-wave (circle) for control (filled) and affected rats (open). Data points indicate the mean±SEM response from ten 10-week-old rats. C: Peak time of dark-adapted a-wave (square) and b-wave (circle) for control (filled) and affected rats (open). Data points indicate the meanpom SEM response from ten 10-week-old rats.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2267729&req=5

f1: Dark-adapted electroretinograms. A: Comparison of dark-adapted ERGs recorded from control and affected rats. B: Amplitude of dark-adapted a-wave (square) and b-wave (circle) for control (filled) and affected rats (open). Data points indicate the mean±SEM response from ten 10-week-old rats. C: Peak time of dark-adapted a-wave (square) and b-wave (circle) for control (filled) and affected rats (open). Data points indicate the meanpom SEM response from ten 10-week-old rats.
Mentions: Figure 1A presents ERGs recorded from representative control (left) and mutant (right) animals under dark-adapted conditions. Under dark-adapted conditions, ERGs of mutant rats lacked distinct b-waves or oscillatory potentials throughout the range of stimulus intensities. In response to high stimulus intensities, mutant rats generated a clear a-wave. In comparison to control responses, a-waves of mutant rats were significantly reduced in amplitude. Figure 1B,C show intensity-response functions for dark-adapted a- and b-waves of ten control and ten affected rats.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Aerospace Medicine, Fourth Military Medical University, Xi'an, China.

ABSTRACT

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.

Show MeSH
Related in: MedlinePlus