This spontaneous point transition, causing a substitution of alanine for threonine, provides a model for complete achromatopsis. Cone responses are lost but scotopic ERGs show sensitive rod responses.
Read More +Genetic Background | Generation |
---|---|
000664 C57BL/6J |
N6F23
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | Cnga3 | cyclic nucleotide gated channel alpha 3 |
Retinal staining of homozygotes with PNA at five months of age showed moderate cone loss in the cone outer segment, primarily in the ventral and nasal regions of the retina. Immunohistochemistry at three weeks of age showed normal M-opsin expression but diminished S-opsin expression, and by ten weeks of age no S-opsin staining and the M-opsin expression was mislocalized to the inner segment, cone nuclei and cone pedicles, consistent with early S-cone cell degeneration. By 5.5 months M-opsin was found in the superior retinal hemisphere but rarely found in the inferior hemisphere of homozygotes. Homozygotes were found to have decreased visual acuity and contrast sensitivity, as assessed at 5.5 months of age. At 5 weeks of age, no b-wave response was found in light-adapted ERG, and the b-wave amplitude in dark-adapted ERG was decreased, although statistically similar in amplitudes to that of C57BL/6J controls. Additionally, rod-mediated ERG responses were found to be lower than normal at 5.5 months of age. This homozygote provides a model for complete achromatopsis and AAV5-CBA-mCnga3-mediated gene replacement therapy initiated at 2 weeks of age has been shown to significantly improve these phenotypes (Pang et al., 2012). Because this mutation is an A to G substitution in exon 5 that generates a new SmaI site, PCR-RFLP can be used to genotype for this mutant allele. Primer pair CCTGGACTAGTCTGCAGATG and TGGACCAGTCAAGTCCGTGG will generate a PCR product that can be digested with SmaI to generate two bands, 53 and 37 bp, from mutant sequence and a single band, 90 bp, from wild-type sequence. Heterozygotes will generate all three bands. Protocol details can be obtained from Dr. Bo Chang.
The mutation cone photoreceptor function loss 5 (cpfl5) arose spontaneously in the strain RHJ/LeJ-stpm/J and was identified in 2004. The cpfl5 mutation was crossed onto C57BL/6J via backcross-intercross, reaching backcross generation N5 before the colony was maintained by sibling mating. In this process the stpm mutation was bred out of the line.
Allele Name | cone photoreceptor function loss 5 |
---|---|
Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Cnga3, cyclic nucleotide gated channel alpha 3 |
Gene Synonym(s) | |
Strain of Origin | Not Specified |
Chromosome | 1 |
Molecular Note | Sequence analysis of this spontaneous phenotypic mutation identified a single A to G substitution at Chr1: 37,258,096 (GRCm38.p6, sequence ATGCTGGTTCGAGCCCGG(A-to-G)CA) which changes codon ACA to GCA in exon 5, changing amino acid 165 from threonine to alanine (p.T165A). |
When using the B6.RHJ-Cnga3cpfl5/BocJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #005978 in your Materials and Methods section.
Service/Product | Description | Price |
---|---|---|
Please inquire |
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
What information were you hoping to find through your search?
How easy was it to find what you were looking for?
We may wish to follow up with you. Enter your email if you are happy for us to connect and reachout to you with more questions.
Please Enter a Valid Email Address
Thank you for sharing your feedback! We are working on improving the JAX Mice search. Come back soon for exciting changes.