Analysis Tools
growth/size/body
|
• by 16-18 weeks of age, mice weigh significantly more than wild-type controls
|
adipose tissue
|
• at 6 months of age, subcutaneous fat is clearly increased in both males and females, as shown by MRI analysis
|
|
• at 6 months of age, both subcutaneous and visceral fats are clearly increased in both males and females, as shown by MRI analysis
|
vision/eye
|
• isolated outer segments (OSs) from P20-P21 retinas show abnormal accumulation of non-OS proteins in the OS
• a subset of inner segment (IS) proteins ectopically accumulate in the OS, whereas most OS proteins show no or only marginal reductions
• at P21, retinas show loss of polarized Prom1 localization; although Prom1 is still found within the OS, it is no longer limited to the base but found dispersed throughout the OS, unlike in wild-type retinas
• at P21, Stx3 and Stxbp1, which are normally mostly found in the IS and the synaptic terminal, are highly enriched in the OS, whereas their pool in the rest of the photoreceptor is severely reduced
• at P45, the lamellar structure of the OS is severely disrupted; large vesicular structures are seen in the OS in a subset of photoreceptors, often close to the proximal end of the OS, while longitudinally formed discs are found in another subset of photoreceptors
|
|
• at P21, the OS is moderately shorter (60-75% of wild-type length)
• however, outer nuclear layer thickness is relatively normal until P21
|
|
• at P45, the OS structure is disorganized
|
|
• retinal photoreceptor degeneration is first evident at 2 months of age, with only minimal degeneration detected at P21
• vast majority of photoreceptors are lost by 6 months of age
• photoreceptor degeneration is likely due to accumulation of non-OS proteins in the OS
|
|
• retinas show progressive photoreceptor degeneration
|
|
• at 7-10 weeks of age, average amplitude of ERG a-wave in dark-adapted standard combined response is significantly decreased relative to that in wild-type controls
|
|
• at 7-10 weeks of age, average amplitude of ERG b-wave in dark-adapted standard combined response and 5-Hz response is significantly decreased relative to that in wild-type controls
|
nervous system
|
• at 6 months of age, mice exhibit mild ventriculomegaly
|
|
• isolated outer segments (OSs) from P20-P21 retinas show abnormal accumulation of non-OS proteins in the OS
• a subset of inner segment (IS) proteins ectopically accumulate in the OS, whereas most OS proteins show no or only marginal reductions
• at P21, retinas show loss of polarized Prom1 localization; although Prom1 is still found within the OS, it is no longer limited to the base but found dispersed throughout the OS, unlike in wild-type retinas
• at P21, Stx3 and Stxbp1, which are normally mostly found in the IS and the synaptic terminal, are highly enriched in the OS, whereas their pool in the rest of the photoreceptor is severely reduced
• at P45, the lamellar structure of the OS is severely disrupted; large vesicular structures are seen in the OS in a subset of photoreceptors, often close to the proximal end of the OS, while longitudinally formed discs are found in another subset of photoreceptors
|
|
• at P21, the OS is moderately shorter (60-75% of wild-type length)
• however, outer nuclear layer thickness is relatively normal until P21
|
|
• at P45, the OS structure is disorganized
|
|
• retinal photoreceptor degeneration is first evident at 2 months of age, with only minimal degeneration detected at P21
• vast majority of photoreceptors are lost by 6 months of age
• photoreceptor degeneration is likely due to accumulation of non-OS proteins in the OS
|
integument
|
• at 6 months of age, subcutaneous fat is clearly increased in both males and females, as shown by MRI analysis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Bardet-Biedl syndrome 17 | DOID:0110139 |
OMIM:615994 |
J:226512 | |
