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

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-

SUBMITTER: Gu Y 

PROVIDER: S-EPMC2267729 | biostudies-literature | 2008 Jan

REPOSITORIES: biostudies-literature