B6.ABJ-Prkcq^rpea1 Pde6b^rd1/Boc

Stock number: 018777
Research areas: Developmental Biology Research, Mouse/Human Gene Homologs, Sensorineural Research

Description

This spontaneous mutation provides a model for serous retinal detachment and late-onset retinal pigment epithelium atrophy.

Detailed description

Mice doubly homozygous for Prkcq^rpea1 and Prd6b^rd1 develop a star-shaped fundus pattern and complete retinal detachment by 1 month of age, and by 6 months of age they have enlarged eyes, high intraocular pressure, cataracts, ganglion and photoreceptor cell loss. In the absence of the Prd6b^rd1 mutation Prkcq^rpea1 on a C57BL/6J congenic background (see stock #018777) do develop retinal detachments and accompanying ocular phenotypes, but at a slower rate. The Gnb1^Rd4 allele can substitute for Prd6b^rd1 to expedite disease onset to cause complete retinal detachment by 1 month of age.

Development

The retinal pigment epithelium atrophy 1 mutation (Prkcq^rpea1) arose spontaneously in the strain ABJ/LeJ, which is also homozygous for the Pde6b^rd1 allele. Prkcq^rpea1 and Pde6b^rd1 were both simultaneously backcrossed onto the C57BL/6J background to generate this strain, which was fixed to homozygosity for both alleles after generation N5. In 2017 this strain reached generation N5F22.

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.

Allele

Symbol: Prkcq^rpea1
Name: retinal pigment epithelium atrophy 1
MGI accession ID: MGI:5639127
Generation method: Spontaneous
Attributes: Null/Knockout
Marker symbol: Prkcq
Marker name: protein kinase C, theta
Chromosome: 2
Strain of origin: ABJ/LeJ
Molecular note: A G-to-A transition in the fifth base in intron 6 (GTAAG to GTAAA) affects the splice donor site causes skipping of exon 6, a frameshift, and premature stop codon. Protein was not detected by western blot analysis on extracts of eye, indicating that this is a null allele.