Analysis Tools
mortality/aging
|
• most die in the first week of life with a few surviving several months
(J:18508)
• Background Sensitivity: mice live longer on a C3H background compared to an FVB/N background
(J:18508)
• most die before weaning
(J:37149)
|
cellular
|
• pancreatic cell cilia are reduced in length
|
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• pancreatic cell cilia are reduced in number
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renal/urinary system
|
• bilateral polycyctic kidneys with concurrent destruction of the surrounding parenchyma
(J:18508)
• cycts are initially located in the proximal tubules in newborns with a progressive shift in location to the collecting ducts with age
(J:18508)
• Background Sensitivity: cysts develop at a slower rate on a C3H background compared to an FVB/N background
(J:18508)
• at 20-30 days of age, cysts are about 18% of the total kidney area
(J:73583)
• all kidney cysts are found in the collecting ducts by 10-14 days of age
(J:73583)
|
|
• kidneys are slightly enlarged and pale
|
|
• low urine specific gravity and urine:serum osmolality ratio
• Background Sensitivity: on a C3H background urine specific gravity and urine:serum osmolality ratio remain normal for much longer
|
liver/biliary system
|
• biliary dysplasia
(J:18508)
• excess dysplastic bile ductular structures are seen around the in the liver lesion
(J:37149)
|
|
• proliferation of epithelial cells arising from the portal triad forming primitive, dysplatic and tortuous ductules that expand into the portal and periportal area and can disrupt the limiting plate
(J:18508)
• proliferating cells are poorly differentiated and resemble oval cells
(J:18508)
• Background Sensitivity: the liver lesion is less severe on a C3H background compared to an FVB/N background
(J:18508)
• at 5 days of age, liver lesions center on the portal triad and consist of excess bile ductular structures and proliferating nonparenchymal epithelial cells
(J:37149)
• at 10 days of age, proliferating cells expand the portal triad invade the periportal area
(J:37149)
• in mice that survive past weaning (55 of 497), proliferating cells can disrupt the limiting plate and invade the hepatic parenchyma
(J:37149)
|
|
• portal fibrosis
(J:18508)
• little hepatic fibrosis
(J:37149)
|
endocrine/exocrine glands
|
• pancreatic cell cilia are reduced in length
|
|
• pancreatic cell cilia are reduced in number
|
|
• at 2 days of age, acini appear abnormal, become disorganized and are lost by 21 days of age; however islets appear normal in number and size
• at 1 day of age acini have zymogen granules with a halo appearance at 1 day of age and at 5 days of age show extensive vacuolization, reduced size of the zymogen granules and are lost through apoptosis
|
|
• progressive loss of acinar cells, may be secondary to apoptosis
|
|
• pancreatic ductular hyperplasia and dysplasia along with the loss of acinar cells are seen; however the islets of Langerhans appear normal
|
|
• biliary dysplasia
(J:18508)
• excess dysplastic bile ductular structures are seen around the in the liver lesion
(J:37149)
|
|
• pancreas size is severely reduced at 14 days after birth but not at birth
|
|
• proliferating ductules develop into cysts that can be seen microscopically at 15 - 20 days of age
(J:73583)
• at E17.5 intralobular and intercalated ducts are dilated and this dilation becomes more severe with age
(J:95813)
|
|
• the activated form of carboxypeptidase is detected in the pancreas unlike in wild-type controls
|
|
• in newborns, circulating amylase levels are increased without any change in creatinine levels; however, by 7 days of age pancreatic amylase levels are markedly reduced
|
homeostasis/metabolism
|
• at 14 days of age glucose levels are decreased after fasting compared to fasted wild-type controls
|
|
• Background Sensitivity: increase is higher on an FVB/N background compared to a C3H background
|
|
• glucose levels remain elevated longer compared to wild-type mice
|
|
• marked increase in serum bile acid concentrations
• Background Sensitivity: increase is higher on an FVB/N background compared to a C3H background
|
|
• low urine specific gravity and urine:serum osmolality ratio
• Background Sensitivity: on a C3H background urine specific gravity and urine:serum osmolality ratio remain normal for much longer
|
limbs/digits/tail
polydactyly
(
J:18508
)
|
• preaxial polydactyly occurs on all limbs
• Background Sensitivity: polydactyly is more variable on a C3H background compared to an FVB/N background
|
growth/size/body
|
• proliferating ductules develop into cysts that can be seen microscopically at 15 - 20 days of age
(J:73583)
• at E17.5 intralobular and intercalated ducts are dilated and this dilation becomes more severe with age
(J:95813)
|
|
• bilateral polycyctic kidneys with concurrent destruction of the surrounding parenchyma
(J:18508)
• cycts are initially located in the proximal tubules in newborns with a progressive shift in location to the collecting ducts with age
(J:18508)
• Background Sensitivity: cysts develop at a slower rate on a C3H background compared to an FVB/N background
(J:18508)
• at 20-30 days of age, cysts are about 18% of the total kidney area
(J:73583)
• all kidney cysts are found in the collecting ducts by 10-14 days of age
(J:73583)
|
|
• severe growth retardation
|
|
• kidneys are slightly enlarged and pale
|
digestive/alimentary system
|
• at 2 days of age, acini appear abnormal, become disorganized and are lost by 21 days of age; however islets appear normal in number and size
• at 1 day of age acini have zymogen granules with a halo appearance at 1 day of age and at 5 days of age show extensive vacuolization, reduced size of the zymogen granules and are lost through apoptosis
|
|
• progressive loss of acinar cells, may be secondary to apoptosis
|
|
• pancreatic ductular hyperplasia and dysplasia along with the loss of acinar cells are seen; however the islets of Langerhans appear normal
|
integument
|
• homozygotes have scruffy fur
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive polycystic kidney disease | DOID:0110861 |
OMIM:263200 |
J:18508 , J:37149 , J:73583 , J:95813 | |
