Analysis Tools
mortality/aging
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• about 50% die between 1 and 6 weeks after birth
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pigmentation
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• hair color turns gray postnatally between 4 and 5 weeks, however skin is normal
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growth/size/body
round snout
(
J:73660
)
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• rounder nose
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small ears
(
J:73660
)
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• kidneys exhibit a polycystic appearance
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• body weight is 30-90% of controls
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immune system
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• number of lymphocytes in the peripheral blood, bone marrow, thymus, spleen, and lymph nodes decreases with age, while the number of segmented neutrophils and other hematopoietic lineages is normal
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• more than 80% reduction of B220+/surface immunoglobulin-positive mature B cells in the bone marrow
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• more than 80% reduction of B220+ surface immunoglobulin-negative pre-B cells in the bone marrow
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• accelerated decrease over time in the percentage of CD4-CD8+ cells in the periphery
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renal/urinary system
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• at E13-E16, homozygotes show a 5-fold increase in nick end-labeled apoptotic cells per kidney area relative to wild-type controls
(J:33776)
• at E13-E16, apoptotic cells and phagocytosed apoptotic bodies are often detected among uninduced mesenchymal cells and less frequently among induced tubular and peritubular cells
(J:33776)
• at E13-E16, projections from intact mesenchymal cells are in contact with the cell membrane of apoptotic cells; in some cases, 2-3 apoptotic cells are seen together
(J:33776)
• at E17-E19, homozygotes show a 5-fold increase in apoptotic cells per nephrogenic zone relative to wild-type and heterozygous controls
(J:33776)
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• increased kidney apoptosis throughout the tubular epithelium and the interstitium after P20
(J:111022)
• apoptosis is neither found in non-sclerotic glomeruli nor in stages prior to sclerosis (P20)
(J:111022)
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• apoptotic bodies first seen in severely injured or sclerotic glomeruli at P20
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• kidneys have a nonsmooth surface, are pale, and exhibit interstitial hyperproliferation
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• at P13, renal arteries and veins are abnormally located immediately beneath the kidney surface
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• kidneys exhibit a polycystic appearance
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• disarray of the cortex structure
(J:73660)
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• at P7-8, the renal cortex is thin, abnormally formed, and composed of only one nephron layer, unlike in control mice
(J:111022)
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• vacuolar degeneration of parietal epithelial cells after P20
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• loss of urinary space at sites of glomerular synechiae
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• starting at P12, podocytes show striking injuries, including cell body attenuation, pseudocyst formation, and accumulation of lysosomal elements
• vacuolar degeneration of podocytes after P20
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• foot process effacement starting at P12
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• binucleated podocytes are occasionally observed, indicating extreme cell hypertrophy
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• at E17-E19, no centrifugal maturation of glomeruli is observed, unlike in control mice
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• nuclear shrinkage of endothelial cells after P20
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• increased matrix deposition starting at P12
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• focal mesangiolysis starting at P12
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• starting at P20, enlarged glomeruli develop segmental sclerosis rapidly progressing to global sclerosis
• by P56, almost all glomeruli are sclerotic
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• at E17-E19, the nephrogenic zone contains only ~20% of the glomerular number found in control mice
(J:33776)
• at P0-P2, glomeruli are rarely encountered in the deep cortex
(J:33776)
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• prior to P20, the number of glomeruli per unit volume cortex is ~20% of that in wild-type controls
(J:111022)
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• extensive tuft adhesions to Bowman's capsule after P20
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• at E18, only a few, but large, glomeruli are observed in the deep cortex
(J:33776)
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• at P7-8, some glomeruli appear hypertrophied
(J:111022)
• after P8, the volume of non-sclerotic glomeruli is 4x higher than that of wild-type controls
(J:111022)
• by P56, non-sclerotic glomeruli are few in number and severely hypertrophied
(J:111022)
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• at P0-P2, the margin between the renal cortex and the medulla is indistinct, unlike in control mice
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• at E17-E19, homozygotes display inactive nephrogenesis, probably as a result of fulminant apoptosis in the mesenchyme at E13-E16
• however, initial induction of nephrons at E13 is normal
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• at E17, the nephrogenic zone is thin with immature tubuli scattered among the residual uninduced mesenchyme
• at E17-E19, a 5-fold increase in the number of apoptotic cells is noted in the nephrogenic zone
• at P0-P2, the nephrogenic zone is extremely thin and consists of uninduced mesenchymal cells
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• dilated renal tubules with hypertrophic epithelium
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• disarray of the medulla structure
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• at P0-P2, homozygotes display smaller kidneys than wild-type or heterozygous control mice
(J:33776)
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• at P7-8, mutant kidneys are smaller than wild-type
(J:111022)
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• significantly reduced kidney weight from P7 to P56
• however, kidney growth rate is normal
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• homozygotes display severe renal hypoplasia
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• at E17-E19, homozygotes exhibit one-fifth of the nephron number found in control mice
(J:33776)
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• at P7-8, nephron number is dramatically reduced
(J:111022)
• severe oligonephria is established at birth
(J:111022)
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• at P0-P2, several homozygotes display scattered dilatation in the lumen of renal tubules
(J:33776)
• dilated renal tubules with hypertrophic epithelium
(J:73660)
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• after P8, hypertrophic tubules are dilated
(J:111022)
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• at E17-E19, proximal and distal tubuli are found in the deep layer with enlargement
(J:33776)
• at P0-P2, renal tubuli are hypertrophic
(J:33776)
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• at P7-8, some tubules appear hypertrophied
(J:111022)
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• after birth, kidney structural damage rapidly progresses to glomerulosclerosis and cystic renal degeneration
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pale kidney
(
J:73660
)
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• at E18, only rare convolution of ureteric buds is observed in the subcapsular area, unlike in control mice
• at P0-P2, ends of ureteric buds are occasionally observed in the subcapsular layer but are not convoluted
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• at P0-P2, ureteric buds rarely extend to the subcapsular region, unlike in control mice
• neonatal UBs only extend as far as the deep layer of the kidney
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• at P0-P2, ureteric buds are slender
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• renal failure develops soon after birth
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hearing/vestibular/ear
small ears
(
J:73660
)
hematopoietic system
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• number of lymphocytes in the peripheral blood, bone marrow, thymus, spleen, and lymph nodes decreases with age, while the number of segmented neutrophils and other hematopoietic lineages is normal
|
|
• more than 80% reduction of B220+/surface immunoglobulin-positive mature B cells in the bone marrow
|
|
• more than 80% reduction of B220+ surface immunoglobulin-negative pre-B cells in the bone marrow
|
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• accelerated decrease over time in the percentage of CD4-CD8+ cells in the periphery
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craniofacial
round snout
(
J:73660
)
|
• rounder nose
|
small ears
(
J:73660
)
integument
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• hair color turns gray postnatally between 4 and 5 weeks, however skin is normal
|
cellular
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• at E13-E16, homozygotes show a 5-fold increase in nick end-labeled apoptotic cells per kidney area relative to wild-type controls
(J:33776)
• at E13-E16, apoptotic cells and phagocytosed apoptotic bodies are often detected among uninduced mesenchymal cells and less frequently among induced tubular and peritubular cells
(J:33776)
• at E13-E16, projections from intact mesenchymal cells are in contact with the cell membrane of apoptotic cells; in some cases, 2-3 apoptotic cells are seen together
(J:33776)
• at E17-E19, homozygotes show a 5-fold increase in apoptotic cells per nephrogenic zone relative to wild-type and heterozygous controls
(J:33776)
|
|
|
|
• increased kidney apoptosis throughout the tubular epithelium and the interstitium after P20
(J:111022)
• apoptosis is neither found in non-sclerotic glomeruli nor in stages prior to sclerosis (P20)
(J:111022)
|
|
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• apoptotic bodies first seen in severely injured or sclerotic glomeruli at P20
|
cardiovascular system
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• at P13, renal arteries and veins are abnormally located immediately beneath the kidney surface
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• nuclear shrinkage of endothelial cells after P20
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endocrine/exocrine glands
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| oligomeganephronia | DOID:0111142 | J:111022 | ||
