Analysis Tools
mortality/aging
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• homozygotes typically die from bilateral polycystic nephropathy by 3 weeks of age
|
|
• only 20.5% of offspring of heterozygous intercrosses are mutants, less than Mendelian prediction
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renal/urinary system
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• at birth, the primary cilia on the epithelial cells in cystic tubules appear dysmorphic and vary in length
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• at P3, some cilia appear elongated
• by P14 and P20, many cilia are significantly longer than normal
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• at P3 to P5, most cysts are found in cortical distal tubules with some cysts seen in collecting ducts
• by P14, most of the cysts are in collecting ducts and collecting tubules
• at both stages, proximal tubules appear normal or only slightly dilated
• cysts are found as early as E16 and earlier assessment remains to be done
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endocrine/exocrine glands
small ovary
(
J:144929
)
 |
• although ovaries appear normal by light microscopy, they are smaller than those of wild-type siblings and failure of many ovarian transplants indicates ovarian dysfunction
|
small testis
(
J:144929
)
 |
|
nervous system
hydrocephaly
(
J:144929
)
|
• higher than normal incidence, usually detectable within a few days of birth
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growth/size/body
|
• at P3 to P5, most cysts are found in cortical distal tubules with some cysts seen in collecting ducts
• by P14, most of the cysts are in collecting ducts and collecting tubules
• at both stages, proximal tubules appear normal or only slightly dilated
• cysts are found as early as E16 and earlier assessment remains to be done
|
|
• grossly enlarged polycystic kidneys result in visible swelling of the abdomen
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reproductive system
small ovary
(
J:144929
)
|
|
• although ovaries appear normal by light microscopy, they are smaller than those of wild-type siblings and failure of many ovarian transplants indicates ovarian dysfunction
|
small testis
(
J:144929
)
|
|
|
|
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• at 3 weeks of age the progression of maturing cells from spermatocytes to spermatids appears disorganized with degenerating cells present
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homeostasis/metabolism
|
• by 2 weeks of age
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hematopoietic system
embryo
| N |
• although some Meckel Syndrome Type 3 patients have occipital encephalocele and cerebellar abnormalities, these homozygotes do not
• although some primary cilium defects are associated with situs inversus, these homozygotes do not show any laterality anomalies
|
limbs/digits/tail
| N |
• although some Meckel Syndrome Type 3 patients have polydactyly, these homozygotes do not
|
liver/biliary system
| N |
• although some Meckel Syndrome Type 3 patients have hepatic ductal dysplasia and cysts, these homozygotes do not
|
cellular
|
• at birth, the primary cilia on the epithelial cells in cystic tubules appear dysmorphic and vary in length
|
|
• at P3, some cilia appear elongated
• by P14 and P20, many cilia are significantly longer than normal
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Meckel syndrome | DOID:0050778 |
OMIM:PS249000 |
J:144929 | |
