C3A.Cg-Pde6b⁺ Prph2^Rd2/J

Stock number: 001979
Research areas: Mouse/Human Gene Homologs, Research Tools, Sensorineural Research

Description

Rd2 or retinal degeneration slow (rds) is a dominant spontaneous mutation in Prph2 (peripherin 2), mutant mice are characterized by slow degeneration of the outer nuclear layer of the retina beginning at 5 weeks, and eventual loss of retinal rod and cone cells by 12 months of age. This strain may be useful for studying human retinopathies.

Detailed description

Prph2 (peripherin 2) encodes a tetraspanning membrane protein found in the outer segment of both rod and cone photoreceptor cells, which is involved in photoreceptor disc morphogenesis. In this congenic strain, the retinal degeneration 2 (Prph2^Rd2) allele was transferred from strain O20/A to C3A.BLiA-Pde6b⁺ (wild-type for retinal degeneration 1 - rd1). Rd2 or retinal degeneration slow (rds) is a dominant spontaneous mutation characterized by slow degeneration of the outer nuclear layer of the retina beginning at 5 weeks, loss of retinal rod cells by 7-10 months, loss of cone cells and all visual cell structures by 12 months of age, loss of some pigment epithelial cells and increased density of Muller cells accompanied by fibrillary tangles. This strain may be useful for studying human retinopathies.

Development

This strain was developed in the laboratory of Dr. Willem J. De Grit at Erasmus Universiteit, Rotterdam, the Netherlands. The Prph2^Rd2 allele was transferred from strain O20/A to C3A.BLiA-Pde6b⁺ via more than 20 backcross-intercross cycles (Schalken et al. 1990; S. Sanyal, personal communication). C3A.BLiA-Pde6b⁺ is a congenic strain having the wildtype Pde6b allele of C57BL/LiA on the C3Hf/HeA background. Since its arrival at The Jackson Laboratory, Stock No. 001979 has been maintained by sibling mating of mice homozygous for both Pde6b⁺ and Prph2^Rd2.

Allele

Symbol: Prph2^Rd2
Name: retinal degeneration 2
MGI accession ID: MGI:1856523
Generation method: Spontaneous
Synonyms: Prph2^Rds; Rd-2; rds; rds-; Rds^Rd2; retinal degeneration slow
Marker symbol: Prph2
Marker name: peripherin 2
Marker synonyms: AOFMD; AVMD; CACD2; DS; MDBS1; Nmf193; PRPH; rd2; Rds; RP7; RSRDS; Tspan22
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⁺
Name: wild type
MGI accession ID: MGI:2430003
Generation method: Not Applicable
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: Not Applicable
Expressed genes: Pde6b,phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide,mouse, laboratory
Site of expression: Retina.