Analysis Tools
mortality/aging
|
• 45% of mice die within 24 hours of birth
|
|
• only 9.1% of mice, lower than the expected 25%, are seen at birth
|
growth/size/body
|
• mice have reduced body weight at P30
|
|
• small cysts form in the cortical region of the kidney at P30
|
|
• kidneys progressively deteriorate from P90 to P180, with renal cysts spreading beyond the cortical region to the corticomedullary junction and becoming enlarged, and renal parenchyma replaced by interstitial infiltrates
|
|
• mice have normal body size at birth but are smaller at P30, indicating developmental retardation
|
|
• mice show kidney enlargement as early as P30 and kidneys become progressively larger at P90 and deformed at P180
|
reproductive system
|
• all males are infertile
|
vision/eye
|
• apoptosis is detected in the outer nuclear layer at P21, indicating that outer segment protein mislocalization occurs after photoreceptor cell death
|
|
• photoreceptors show progressive mislocalization of phototransduction proteins
|
|
• 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
|
|
• photoreceptor outer segments are about half as short as that of controls at P30
• shortening of the outer segments progresses rapidly from P30 to P180
|
|
• mice show reduced cone outer segment at P180
|
|
• early-onset and rapidly progressive photoreceptor degeneration; rods degenerate earlier and faster than cones, presenting as rod-cone degeneration
|
|
• loss of cones is seen at P180 but not at P90, indicating late-onset cone degeneration
|
|
• mice have only around 6 rows of photoreceptor nuclei lining the retinal outer nuclear layer at P30
• shortening of the outer nuclear layer progresses rapidly from P30 to P180
• mice have only 4 rows of photoreceptor nuclei left in the outer nuclear layer at P90 and two rows at P180, indicating severe retinal degeneration
|
|
• scotopic ERG shows that a-wave amplitudes are decreased by 53% at P30
• scotopic ERG responses decline by 78% at P90 and by 93% by P180
|
|
• photopic ERG shows that b-wave amplitudes are decreased by 38% at P30
• photopic ERG responses decrease by 71% at P90 and 91% by P180
|
cellular
|
• primary cilium formation is seen only in 8% of mouse embryonic fibroblasts (MEFs) compared to 80% of wild-type MEFs
• the average lengths of cilia in MEFs are shorter
|
|
• renal epithelial cilia are completely absent in the distal convoluted tubules and cortical collecting ducts of the kidneys
|
|
• 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
|
|
• apoptosis is detected in the outer nuclear layer at P21, indicating that outer segment protein mislocalization occurs after photoreceptor cell death
|
homeostasis/metabolism
|
• 24 hour urine albumin to creatinine ratios are elevated 3.3 times compared to wild-type, indicating proteinuria and chronic kidney disease progression by P180
|
limbs/digits/tail
|
• 100% penetrance of preaxial polydactyly in the hindlimbs
• bilateral polydactyly is predominant, accounting for 80% of mice
• among the mice with unilateral polydactyly 75% present with right-sided polydactyly
|
nervous system
|
• photoreceptors show progressive mislocalization of phototransduction proteins
|
|
• 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
|
|
• photoreceptor outer segments are about half as short as that of controls at P30
• shortening of the outer segments progresses rapidly from P30 to P180
|
|
• mice show reduced cone outer segment at P180
|
|
• early-onset and rapidly progressive photoreceptor degeneration; rods degenerate earlier and faster than cones, presenting as rod-cone degeneration
|
|
• loss of cones is seen at P180 but not at P90, indicating late-onset cone degeneration
|
renal/urinary system
|
• 24 hour urine albumin to creatinine ratios are elevated 3.3 times compared to wild-type, indicating proteinuria and chronic kidney disease progression by P180
|
|
• mice exhibit early-onset nephronophthisis
• mice display nephronophthisis and develop chronic kidney disease with an earlier onset than Sdccag8em2Lji homozygotes
|
|
• renal epithelial cilia are completely absent in the distal convoluted tubules and cortical collecting ducts of the kidneys
|
|
• small cysts form in the cortical region of the kidney at P30
|
|
• kidneys progressively deteriorate from P90 to P180, with renal cysts spreading beyond the cortical region to the corticomedullary junction and becoming enlarged, and renal parenchyma replaced by interstitial infiltrates
|
|
• mice show kidney enlargement as early as P30 and kidneys become progressively larger at P90 and deformed at P180
|
|
• mice show rapidly progressive renal fibrosis, from mild fibrosis surrounding the dilated tubules at P30 and P90 to extensive collagen deposits distributed across renal tissue at P180
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Bardet-Biedl syndrome 16 | DOID:0110138 |
OMIM:615993 |
J:328191 | |
