Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6anmf363 mutation
(0 available);
any
Pde6a mutation
(31 available)
Pde6brd1-2J mutation
(1 available);
any
Pde6b mutation
(97 available)
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vision/eye
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N |
• a and b wave response is normal at 5 to 6 months of age
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vision/eye
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N |
• a and b wave response is normal at 5 to 6 months of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chsy1skt mutation
(0 available);
any
Chsy1 mutation
(23 available)
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cellular
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• this disruption in the synthesis of chondroitin sulfate glycosaminoglycans is evident in retinal interphotoreceptor matrix and hippocampus
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immune system
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• significant reduction in neutrophils in the bone marrow but not the spleen
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• diminished numbers of macrophages in the bone marrow and spleen
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• increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age
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• CD45+ inflammatory cells are found
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hematopoietic system
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• significant reduction in neutrophils in the bone marrow but not the spleen
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• diminished numbers of macrophages in the bone marrow and spleen
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• increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age
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behavior/neurological
nervous system
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• increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age
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• rhodopsin staining shows disrupted outer segment morphology with disorganized and undefined columnar and tip structures
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• at 1.5 years of age an increasing number of empty spaces are found surrounding cells in the CA1, CA2, and CA3 and a loss of wolframin ER transmembrane glycoprotein stained cells
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limbs/digits/tail
growth/size/body
vision/eye
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• rhodopsin staining shows disrupted outer segment morphology with disorganized and undefined columnar and tip structures
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• absent chondroitin sulfate proteoglycans, ectopic synaptic interactions between photoreceptor and bipolar cells, increased apoptosis and progressive photoreceptor cell degeneration
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• scotopic ERG at 8 weeks of age shows decreased a and b wave amplitudes
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mortality/aging
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• average lifespan of homozygotes is 20 months instead of 27 months
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integument
renal/urinary system
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• CD45+ inflammatory cells are found
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Analysis Tools
