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 +
|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 Synonym(s)||nmf144; Rd8-|
|Gene Symbol and Name||Crb1, crumbs family member 1, photoreceptor morphogenesis associated|
|Strain of Origin||C57BL/6By or C57BL/6N|
|Molecular Note||The mutation in the rd8 mouse has been identified as a single base deletion at nt3481 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 Synonym(s)||Cdh23753A; mdfw|
|Gene Symbol and Name||Cdh23, cadherin 23 (otocadherin)|
|Strain of Origin||multiple strains|
|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.
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.
MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.
In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.
Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.
In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.
MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.
The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.