Analysis Tools
mortality/aging
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• 42.2% of mice die within 24 hours of birth
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• only 17.4% of mice, lower than the expected 25%, are seen at birth
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growth/size/body
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• mice have reduced body weight at P30
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• cyst formation in the kidney cortical region is seen at P90 and P180
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• mice have normal body size at birth but are smaller at P30, indicating developmental retardation
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• mild kidney enlargement is seen at P90 and P180, but not at P30
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reproductive system
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• all males are infertile
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vision/eye
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• apoptosis is detected in the outer nuclear layer at P21, indicating that outer segment protein mislocalization occurs after photoreceptor cell death
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• photoreceptors show progressive mislocalization of phototransduction proteins
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• mice exhibit shortened connecting cilium and disorganized outer segment compartments, with significantly deteriorated disk membranes at P60, indicating that structure of photoreceptor cilia is destroyed
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• photoreceptor outer segments are about half as short as that of controls at P30
• shortening of the outer nuclear layer and outer segments progresses rapidly from P30 to P180
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• early-onset and rapidly progressive photoreceptor degeneration; rods degenerate earlier and faster than cones, presenting as rod-cone degeneration
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• mice have only around 8 rows of photoreceptor nuclei lining the retinal outer nuclear layer at P30
• mice have only around 6 rows of photoreceptor nuclei remaining in the outer nuclear layer at P90 and close to 4 rows at P180
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• scotopic ERG shows that a-wave amplitudes are decreased by 49% at P30
• scotopic ERG responses decline by 69% at P90 and by 85% by P180
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• photopic ERG shows that b-wave amplitudes are decreased by 33% at P30
• photopic ERG responses decrease by 60% at P90 and 85% by P180
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cellular
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• primary cilium formation is seen only in 39% of mouse embryonic fibroblasts (MEFs) compared to 80% of wild-type MEFs
• the average lengths of cilia in MEFs are shorter
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• the number of renal epithelial cilia is decreased in the distal convoluted tubules and cortical collecting ducts of the kidneys
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• the length of renal epithelial cilia is decreased in the distal convoluted tubules and cortical collecting ducts of the kidneys
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• mice exhibit shortened connecting cilium and disorganized outer segment compartments, with significantly deteriorated disk membranes at P60, indicating that structure of photoreceptor cilia is destroyed
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• apoptosis is detected in the outer nuclear layer at P21, indicating that outer segment protein mislocalization occurs after photoreceptor cell death
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homeostasis/metabolism
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• 24 hour urine albumin to creatinine ratios are elevated 1.5 times compared to wild-type, indicating proteinuria and chronic kidney progression by P180
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limbs/digits/tail
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• 95% penetrance of preaxial polyactyly in the hindlimbs
• bilateral polydactyly is predominant, accounting for 58% of mice
• among the mice with unilateral polydactyly 65% present with right-sided polydactyly
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nervous system
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• photoreceptors show progressive mislocalization of phototransduction proteins
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• mice exhibit shortened connecting cilium and disorganized outer segment compartments, with significantly deteriorated disk membranes at P60, indicating that structure of photoreceptor cilia is destroyed
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• photoreceptor outer segments are about half as short as that of controls at P30
• shortening of the outer nuclear layer and outer segments progresses rapidly from P30 to P180
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• early-onset and rapidly progressive photoreceptor degeneration; rods degenerate earlier and faster than cones, presenting as rod-cone degeneration
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renal/urinary system
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• 24 hour urine albumin to creatinine ratios are elevated 1.5 times compared to wild-type, indicating proteinuria and chronic kidney progression by P180
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• mice display nephronophthisis and develop chronic kidney disease with a later onset than Sdccag8em1Lji homozygotes
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• the number of renal epithelial cilia is decreased in the distal convoluted tubules and cortical collecting ducts of the kidneys
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• the length of renal epithelial cilia is decreased in the distal convoluted tubules and cortical collecting ducts of the kidneys
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• cyst formation in the kidney cortical region is seen at P90 and P180
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• mild kidney enlargement is seen at P90 and P180, but not at P30
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• minimal renal fibrosis is seen at P90 and obviously at P180
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Bardet-Biedl syndrome 16 | DOID:0110138 |
OMIM:615993 |
J:328191 | |
