This spontaneous mutation provides a model for serous retinal detachment and late-onset retinal pigment epithelium atrophy.
Read More +Genetic Background | Generation |
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000664 C57BL/6J |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Pde6b | phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous (Null/Knockout) | Prkcq | protein kinase C, theta |
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 |
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Allele Type | Spontaneous |
Allele Synonym(s) | Pdebrd1; rd; rd1; rd-1; rodless retina |
Gene Symbol and Name | Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide |
Gene Synonym(s) | |
Strain of Origin | various |
Chromosome | 5 |
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 |
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Allele Type | Spontaneous (Null/Knockout) |
Allele Synonym(s) | |
Gene Symbol and Name | Prkcq, protein kinase C, theta |
Gene Synonym(s) | |
Strain of Origin | ABJ/LeJ |
Chromosome | 2 |
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. |
When using the B6.ABJ-Prkcqrpea1 Pde6brd1/Boc mouse strain in a publication, please cite the originating article(s) and include JAX stock #018777 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for Prkcq<rpea1> and Pde6b<rd1> |
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