B6.FVB-Pde6b^rd1/ClcJ

Stock number: 041417
Product name: C57BL/6J.Pde6b^rd1
Research areas: Mouse/Human Gene Homologs, Sensorineural Research

Description

C57BL/6J.Pde6b^rd1 congenic mice carry the FVB/NCrl-derived Pde6b^rd1 allele on the C57BL/6J genetic background. This strain is useful in studies of retinal degeneration and retinitis pigmentosa.

Detailed description

C57BL/6J.Pde6b^rd1 congenic mice carry the FVB/NCrl-derived Pde6b^rd1 allele on a C57BL/6J genetic background. The strain was produced through progressive backcrosses of an FVB/NCrl mouse line to C57BL/6J, while selecting for the transference of the Pde6b^rd1 allele. A genome-wide scan using a panel of 144 single nucleotide polymorphisms (SNPs) revealed all of the tested background markers to be of C57BL/6J origin.

This strain recapitulates the electroretinogram and optomotor results expected for mouse strains containing the recessive retinal degeneration 1 (rd1) mutation of the mouse Pde6b (phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide) gene. Examination of retinal structure in cross sections of eyes isolated from homozygous mice show a degree of thinning of the outer nuclear layer expected for an rd1 mutation, resulting in nearly complete loss of the outer nuclear layer by postnatal day 35.

Development

FVB/NCrl mice (Strain code: 207, Charles River Laboratories) were backcrossed to C57BL/6J (Stock No. 000664, The Jackson Laboratory) for more than 10 generations by the donating laboratory. This was done to selectively transfer the Pde6b^rd1 allele on mouse Chromosome 5 from the FVB/NCrl strain onto a C57BL/6J genetic background. A genomic scan using a panel of 144 single nucleotide polymorphism (SNP) markers spanning all 19 autosomes and the X chromosome was carried out by The Jackson Laboratory Services group. This assay indicated a progressed C57BL/6J genetic background, with all 144 polymorphisms reflecting C57BL/6J alleles.

The recessive retinal degeneration 1 (rd1) allele of the mouse Pde6b (phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide) gene is associated with two mutations: a murine leukemia virus (Xmv-28) insertion in reverse orientation in intron 1, and a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain.

Upon arrival, sperm was cryopreserved. To establish a live colony, an aliquot of frozen sperm was used to fertilize C57BL/6J oocytes (Stock No. 000664).

Allele

Symbol: Pde6b^rd1
Name: retinal degeneration 1
MGI accession ID: MGI:1856373
Generation method: Spontaneous
Synonyms: Pdeb^rd1; rd; rd1; rd-1; rodless retina
Marker symbol: Pde6b
Marker name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Marker synonyms: CSNB3; CSNBAD2; GMP-PDEbeta; nmf137; PDEB; r; rd; rd1; rd10; RP40
Chromosome: 5
Strain of origin: various
Molecular note: Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested.
General note: The following inbred strains are known to be homozygous for Pde6b: C3H sublines, CBA/J, FVB/NJ, PL/J, SB, SJL/J, and SWR/J.