Analysis Tools
nervous system
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• at P14, diminished and shortened Ahi1 and Rp1 domains and apical axonemal accumulation of Ift88 are observed along with unaltered Kif3a, similar to what is reported for Tmem138tm1.1Cql homozygotes
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• at P14, rhodopsin is mislocalized to the photoreceptor inner segment (IS)
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• at 2 months of age, SEM images show photoreceptors with bumpy outer surfaces, unlike the smooth and uniform OSs observed in wild-type photoreceptors
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• at 2 months of age, rod OS discs exhibit variable morphological defects on TEM sections, including splitting and disorientated discs and intra- and extracellular vesicles, suggesting that Tmem138 functions not only in initial OS morphogenesis but also in OS disc renewal
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• at P14, many photoreceptors exhibit disorganized rhodopsin-stained outer segments (OSs) with increased rhodopsin puncta near the base of the OS
• Western blotting of rhodopsin and peripherin 2 (PRPH2/RDS) indicates a lower rhodopsin to peripherin 2 ratio in P21 photoreceptor OS extracts
• however, despite severe mislocalization of rhodopsin, PRPH2/RDS is not significantly altered in the OS at P14
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• at 2 months of age, disorganized retinal photoreceptors appear swollen and deteriorate further
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vision/eye
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• at P14, diminished and shortened Ahi1 and Rp1 domains and apical axonemal accumulation of Ift88 are observed along with unaltered Kif3a, similar to what is reported for Tmem138tm1.1Cql homozygotes
|
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• at P14, rhodopsin is mislocalized to the photoreceptor inner segment (IS)
|
|
• at 2 months of age, SEM images show photoreceptors with bumpy outer surfaces, unlike the smooth and uniform OSs observed in wild-type photoreceptors
|
|
• at 2 months of age, rod OS discs exhibit variable morphological defects on TEM sections, including splitting and disorientated discs and intra- and extracellular vesicles, suggesting that Tmem138 functions not only in initial OS morphogenesis but also in OS disc renewal
|
|
• at P14, many photoreceptors exhibit disorganized rhodopsin-stained outer segments (OSs) with increased rhodopsin puncta near the base of the OS
• Western blotting of rhodopsin and peripherin 2 (PRPH2/RDS) indicates a lower rhodopsin to peripherin 2 ratio in P21 photoreceptor OS extracts
• however, despite severe mislocalization of rhodopsin, PRPH2/RDS is not significantly altered in the OS at P14
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• at 2 months of age, disorganized retinal photoreceptors appear swollen and deteriorate further
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cellular
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• at P14, diminished and shortened Ahi1 and Rp1 domains and apical axonemal accumulation of Ift88 are observed along with unaltered Kif3a, similar to what is reported for Tmem138tm1.1Cql homozygotes
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