This spontaneous mutation causes retinal rod cell dysfunction but permits normal cone function.
Read More +Genetic Background | Generation |
---|---|
000664 C57BL/6J |
N6F5
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | Gnat1 | guanine nucleotide binding protein, alpha transducing 1 |
On this C57BL/6J congenic background this spontaneous mutation in Gnat1 causes homozygotes to have abnormal dark-adapted electroretinogram as early as 3 weeks of age, the earliest timepoint assessed. While rod and cone transducins can substitute for each other to some degree, these homozygotes have normal cone function but rod dysfunction. No abnormalities are detected in retinal structure by 6 months of age.
Dr. Bo Chang found that both the Gnat2cpfl3 and Gnat1irdr alleles were in STOCK Tg(tetO-HIST1H2BJ/GFP)47Efu/J, which derived from CD1. Non-transgenic mice from this line that were carrying the Gnat2cpfl3 and Gnat1irdr alleles were sibling intercrossed for several generations and then the Gnat1indr mutation was bred away from Gnat2cpfl3 by backcrossing to C57BL/6J to generate this congenic strain. This strain was then sibling inbred to homozygosity for Gnat1irdr.
Allele Name | ICR derived retinal dysfunction rod |
---|---|
Allele Type | Spontaneous |
Allele Synonym(s) | rd17; retinal degeneration 17 |
Gene Symbol and Name | Gnat1, guanine nucleotide binding protein, alpha transducing 1 |
Gene Synonym(s) | |
Strain of Origin | ICR |
Chromosome | 9 |
General Note | Mice homozygous for this mutation have impaired rod electrophysiology but normal retinal morphology. |
Molecular Note | The molecular mutation is a 57 bp deletion in intron 4 of the gene, which alters the splice donor site. This results in retention of the remaining 48 bp of the intron in the expressed mRNA. The insertion converts a cytosine to a guanine at nucleotide position 450 of the ORF and changes codon 150 (TAC) to a stop codon (TAG) (amino acid change: Tyr150Ter). Western blot analysis showed that no detectable protein is expressed from this allele. Because this mutation was found in ICR and CD1 it is carried in many strains, including IRD1 and IRD2. |
When using the retinal degeneration 17 mouse strain in a publication, please cite the originating article(s) and include JAX stock #008811 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.