Analysis Tools
renal/urinary system
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• in tubules distal to the proximal tubules, cilia are shorter compared to wild-type cells (1.0+/-0.6 and 1.3+/-0.6 compared to 3.1+/-1.4 and 3.5+/-1.7 at 4 and 7 days of age, respectively)
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endocrine/exocrine glands
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• increased dilation of duct-like structures and pancreatic lobules are separated by increased interstitial space as well as increased number of tubular complexes; however the islets of Langerhans are morphologically normal and not reduced in number
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• the remaining pancreatic cilia are shortened at E15.5, E18.5 and 4 days of age
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• pancreatic primary cilia are almost absent
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• progressive loss of acinar cells from birth to 17 days
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• relative to acinar and beta-cells a 3-fold increase in ductal cell proliferation is seen
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• loss of acinar cells results in severe reduction in pancreatic mass
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pancreas cyst
(
J:90990
)
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• by 2 weeks of age large pancreatic cyst is seen and at E18.5, intracinar ducts are slightly dilated
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• shortly after birth amylase expression is increased; however glucose tolerance is normal
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limbs/digits/tail
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• at E12.5, minor expansion of the limb bud is seen mainly on the anterior side
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• carpals are fused or malformed in many mice
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• phalange 2 of digits II and V is severely reduced in length or absent
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polydactyly
(
J:83305
)
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• in the forelimbs polydactyly is often seen as a fusion with digit I and in the hindlimbs polydactyly is a complete duplication with both phalanges resembling digit I
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• tarsals are fused or malformed in many mice
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craniofacial
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• the parietal and frontal sutures are disorganized and fail to fuse
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• mice have 4 rather than 3 molars on both the upper and lower jaws with the extra molar composed of a single cuspid and rostral to what is normally the first molar
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• minor clefting of the palatine process
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hearing/vestibular/ear
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• the opening in the perioctic capsule is absent
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skeleton
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• the parietal and frontal sutures are disorganized and fail to fuse
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• mice have 4 rather than 3 molars on both the upper and lower jaws with the extra molar composed of a single cuspid and rostral to what is normally the first molar
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• carpals are fused or malformed in many mice
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• tarsals are fused or malformed in many mice
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• the tibia and fibula fail to fuse
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• phalange 2 of digits II and V is severely reduced in length or absent
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digestive/alimentary system
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• minor clefting of the palatine process
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• progressive loss of acinar cells from birth to 17 days
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• relative to acinar and beta-cells a 3-fold increase in ductal cell proliferation is seen
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embryo
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• at E12.5, minor expansion of the limb bud is seen mainly on the anterior side
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cellular
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• in tubules distal to the proximal tubules, cilia are shorter compared to wild-type cells (1.0+/-0.6 and 1.3+/-0.6 compared to 3.1+/-1.4 and 3.5+/-1.7 at 4 and 7 days of age, respectively)
|
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• the remaining pancreatic cilia are shortened at E15.5, E18.5 and 4 days of age
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• pancreatic primary cilia are almost absent
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growth/size/body
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• mice have 4 rather than 3 molars on both the upper and lower jaws with the extra molar composed of a single cuspid and rostral to what is normally the first molar
|
|
• minor clefting of the palatine process
|
pancreas cyst
(
J:90990
)
|
• by 2 weeks of age large pancreatic cyst is seen and at E18.5, intracinar ducts are slightly dilated
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive polycystic kidney disease | DOID:0110861 | J:65500 , J:90990 | ||
