C3A Pde6b^rd1.O20/A-Prph2^Rd2/J

Stock number: 001957
Product name: rd, rds double homozygote
Research areas: Mouse/Human Gene Homologs, Research Tools, Sensorineural Research

Detailed description

These mice carry both the Pde6b^rd1 (retinal degeneration 1, originally rd) and the Prph2^Rd2 (retinal degeneration 2 or retinal degeneration slow, originally rds) mutations on a C3H genetic background. Double homozygous mutants show intermediate levels of mRNA coding for opsin, the alpha-subunit of transducin, 48 kDa protein and the beta-subunit of cGMP-phosphodiesterase between those observed in the two separate homozygotes for all mRNAs studied, suggesting a possible interaction between the Pde6b^rd1 and Prph2^Rd2 genes.

Development

This strain was developed in the laboratory of Dr. Willem J. De Grip at Erasmus Universiteit, Rotterdam, the Netherlands. Mice of strains homozygous for Prph2^Rd2 and for Pde6b^rd1 were crossed to produce double heterozygotes; these F1 animals were then intercrossed, and mice homozygous for both mutations were selected from the F2 for further breeding. The Pde6b^rd1 strain used was derived from an intercross following 8 generations of backcrossing the wild type Pde6b allele from C57BL/LiA onto the C3Hf/HeA background; this homozygous Pde6b^rd1/Pde6b^rd1 line was the partner strain of the homozygous Pde6b wildtype C3A.BLiA-Pde6b⁺ (see Stock No. 001912) derived from the same intercross. The latter was the parent strain of the Prph2^Rd2 strain, C3A.Cg-Pde6b⁺ Prph2^Rd2 (see Stock No. 001979) used in the initial cross leading to the present strain. Thus, the background of Stock No. 001957 is primarily C3Hf/HeA, but small regions of the genome may be derived from O20/A and/or from C57BL/LiA.

Allele

Symbol: Prph2^Rd2
Name: retinal degeneration 2
MGI accession ID: MGI:1856523
Generation method: Spontaneous
Marker symbol: Prph2
Marker name: peripherin 2
Chromosome: 17
Strain of origin: O20/A
Molecular note: The mutation is an insertion of approximately 10 kb in the gene after nucleotide 899 (numbering of the encoded mRNA), disrupting the protein coding sequence in exon 2. The inserted DNA was similar to both the TSE of mice, repeated elements found in the H2 complex, and to the mouse early transposon (ETn). Northern blot analysis demonstrated that an aberrant 12 kb transcript was produced from this allele, although at reduced levels compared to wild-type. This allele is predicted to encode a truncated protein with its carboxy terminal 116 amino acids replaced by 35 amino acids from sequences in the insertion. Mutant mice doubly homozygous for two retinal degeneration mutations (Pde6b^rd1 and Rds^Rd2) shows an intermediate level of mRNAs for the beta subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6b^rd1 and Rds^Rd2.

Allele

Symbol: Pde6b^rd1
Name: retinal degeneration 1
MGI accession ID: MGI:1856373
Generation method: Spontaneous
Marker symbol: Pde6b
Marker name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
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.