RGD Reference Report - Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Authors: Kohl, S  Baumann, B  Broghammer, M  Jagle, H  Sieving, P  Kellner, U  Spegal, R  Anastasi, M  Zrenner, E  Sharpe, LT  Wissinger, B 
Citation: Kohl S, etal., Hum Mol Genet. 2000 Sep 1;9(14):2107-16.
RGD ID: 1600870
Pubmed: PMID:10958649   (View Abstract at PubMed)

Achromatopsia is an autosomal recessive disorder featuring total colour blindness, photophobia, reduced visual acuity and nystagmus. While mutations in the CNGA3 gene on chromosome 2q11 are responsible for achromatopsia in a subset of patients, previous linkage studies have localized another achromatopsia locus, ACHM3, on chromosome 8q21. Using achromatopsia families in which CNGA3 mutations have been excluded, we refined the ACHM3 locus to a 3.7 cM region enclosed by markers D8S1838 and D8S273. Two yeast artificial chromosome (YAC) contigs covering nearly the entire ACHM3 interval were constructed. Database searches with YAC content sequences identified two overlapping high throughput genomic sequencing phase (HTGS) entries which contained sequences homologous to the murine cng6 gene encoding the putative beta-subunit of the cone photoreceptor cGMP-gated channel. Using RT-PCR and RACE, we identified and cloned the human cDNA homologue, designated CNGB3, which encodes an 809 amino acid polypeptide. Northern blot analysis revealed a major transcript of approximately 4.4 kb specifically expressed in the retina. The human CNGB3 gene consists of 18 exons distributed over approximately 200 kb of genomic sequence. Analysis of the CNGB3 gene in achromats revealed six different mutations including a missense mutation (S435F), two stop codon mutations (R203X and E336X), a 1 bp and an 8 bp deletion (1148delC and 819-826del) and a putative splice site mutation of intron 13. The 1148delC mutation was identified recurrently in several families, and in total was present on 11 of 22 disease chromosomes segregating in our families.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
color blindness susceptibilityIAGP 1600870DNA:mutationsRGD 
color blindness susceptibilityISOCNGB3 (Homo sapiens)1600870; 1600870DNA:mutationsRGD 

Objects Annotated

Genes (Rattus norvegicus)
Cngb3  (cyclic nucleotide gated channel subunit beta 3)

Genes (Mus musculus)
Cngb3  (cyclic nucleotide gated channel beta 3)

Genes (Homo sapiens)
CNGB3  (cyclic nucleotide gated channel subunit beta 3)


Additional Information