Retinal degeneration 8 (rd8) is a spontaneous frame shift mutation in the Crb1 (crumbs homolog 1 (Drosophila)) gene. Mice homozygous for the rd8 allele exhibit a discontinuous and fragmented zona adherens, shortened photoreceptor inner and outer segments, and areas of retinal degeneration (retinal spotting).
Read More +Genetic Background | Generation |
---|---|
N2N4F?+26
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | Crb1 | crumbs family member 1, photoreceptor morphogenesis associated |
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | Cdh23 | cadherin 23 (otocadherin) |
The C57BL/6J background strain is homozygous for the age related hearing loss mutation Cdh23ahl, which on this background results in progressive hearing loss with onset after 10 months of age.
Crb1 (crumbs homolog 1 (Drosophila)) encodes a transmembrane protein that localizes to the apical membrane of epithelial cells and is involved cell polarity in the retina and in the assembly of zonula adherens. Mutations in CRB1 are associated with retinitis pigmentosa and Lebers congenital amaurosis. Mice homozygous for retinal degeneration 8 (rd8) exhibit a discontinuous and fragmented zona adherens, shortened photoreceptor inner and outer segments by 2 weeks of age, and large retinal spots. In contrast to phenotypes associated with other retinal degeneration alleles, retinal degeneration in rd8 mutants is localized to the retinal spots. Within these spots, caused by retinal folds and pseudorosettes, retinal thinning in both the inner and outer nuclear layers is observed. The phenotype associated with rd8 allele is variable depending on genetic background. On the C57BL/6 background, 19% of homozygotes do not exhibit retinal spotting.
Although all C3H strains carry the retinal degeneration 1 mutation of Pde6b, retinas of C3fBAnl.Cg-Catb/AnlJ mice were found to have a peculiar, granular appearance distinct from the usual retinal degeneration 1 phenotype. F2 progeny of a cross of C3fBAnl.Cg-Catb/AnlJ and C57BL/6ByJ mice exhibited three retinal phenotypes: 1) normal; 2) patches of pigment deposition and large, diffuse pigmented regions typical of retinal degeneration 1 homozygotes; and 3) small, discrete, light-colored dots throughout the fundus. Mice exhibiting the last phenotype were intercrossed among themselves to produce a stock that was homozygous for Mfrprd6 and for the wild-type allele of Pde6b. During this process, a separate mutation with a distinct map position was identified and characterized as Crb1rd8. STOCK Crb1rd8 Mfrprd6/J was homozygous for both Mfrprd6 and Crb1rd8 on this mixed genetic background that derived in part from C57BL/6ByJ, C3H, 101, and a linkage testing stock derived from non-inbred stocks. In order to isolate Crb1rd8 this stock was backcrossed to C57BL/6ByJ once more, the offspring intercrossed, and their offspring were selected for the Crb1rd8 phenotype. This mutation was then backcrossed to C57BL/6J for 4 generations before this strain was maintained by sibling intercrossing.
Allele Name | retinal degeneration 8 |
---|---|
Allele Type | Spontaneous |
Allele Synonym(s) | Crb16N; nmf144; Rd8- |
Gene Symbol and Name | Crb1, crumbs family member 1, photoreceptor morphogenesis associated |
Gene Synonym(s) | |
Strain of Origin | C57BL/6By or C57BL/6N |
Chromosome | 1 |
Molecular Note | The mutation in the rd8 mouse has been identified as a single base deletion of a C (G on forward strand) at coding nucleotide 3481 in the gene. This deletion causes a frame shift and a premature stop codon that truncates the transmembrane and cytoplasmic domain of the protein after amino acid 1207. This mutation has been found to be present in all sublines of C57BL/6N and in C57BL/6ByJ, but not in any C57BL/6J subline. It occurred sometime between transfer of mice from JAX to NIH, in 1951, and from NIH to Donald Bailey, in 1961. |
Allele Name | age related hearing loss 1 |
---|---|
Allele Type | Spontaneous |
Allele Synonym(s) | Cdh23753A; mdfw |
Gene Symbol and Name | Cdh23, cadherin 23 (otocadherin) |
Gene Synonym(s) | |
Strain of Origin | multiple strains |
Chromosome | 10 |
Molecular Note | Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G to A transition at coding nucleotide position 753 of Cdh23 (SNP rs257098870). This hypomorphic allele changes splice donor site G-GT to A-GT, causing frame skipping of exon 7. This is predicted to delete part of the 2nd and 3rd ectodomains and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD-1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: 129S1/SvImJ, C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ. |
When using the STOCK Crb1rd8/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #003392 in your Materials and Methods section.
Service/Product | Description | Price |
---|---|---|
Homozygous for Crb1<rd8>, 1 pair minimum |
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.