Mice doubly homozygous for Prkcqrpea1 and Prd6brd1 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 Prd6brd1 mutation Prkcqrpea1 on a C57BL/6J congenic background (see stock #018777) do develop retinal detachments and accompanying ocular phenotypes, but at a slower rate. The Gnb1Rd4 allele can substitute for Prd6brd1 to expedite disease onset to cause complete retinal detachment by 1 month of age.
The retinal pigment epithelium atrophy 1 mutation (Prkcqrpea1) arose spontaneously in the strain ABJ/LeJ, which is also homozygous for the Pde6brd1 allele. Prkcqrpea1 and Pde6brd1 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 Name||retinal degeneration 1|
|Allele Synonym(s)||Pdebrd1; rd; rd1; rd-1; rodless retina|
|Gene Symbol and Name||Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Strain of Origin||various|
|General Note||The following inbred strains are known to be homozygous for Pde6b |
|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.|
|Allele Name||retinal pigment epithelium atrophy 1|
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Prkcq, protein kinase C, theta|
|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.|