Analysis Tools
mortality/aging
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• mice die by E18.5
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skeleton
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• mice exhibit reduced ossification of the frontal bone compared with wild-type mice
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• 80% of mice exhibit hypomineralization and/or splitting of the supraoccipital bone unlike wild-type mice
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• mice exhibit reduced ossification of the parietal bone compared with wild-type mice
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• in one mouse
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• mice exhibit campomelia (bowing of the long bones) unlike wild-type mice
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• at E18.5 in the hindlimbs
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• in some mice
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rib fusion
(
J:154075
)
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• in some mice
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renal/urinary system
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• at E18.5, the largest kidney cysts are found in the glomeruli and proximal tubules
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• at E18.5, mice exhibit multiple kidney cysts unlike wild-type mice
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• at E18.5
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• dilated
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• medullary thick ascending limbs exhibit dilation of the epithelial tubules unlike in wild-type mice
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• at E18.5, multiple segments of mutant nephrons dilate or undergo cystogenesis
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• mice exhibit genitourinary defects unlike wild-type mice
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nervous system
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• floor plate cells are reduced compared to in wild-type mice
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hydrocephaly
(
J:154075
)
exencephaly
(
J:154075
)
|
• Background Sensitivity: fewer mice than on a C57BL/6 and C3HeB/FeJ background
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liver/biliary system
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• mice develop multiple bile ducts unlike in wild-type mice
• however, mice do not develop biliary cysts
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• mice exhibit disruptions in the ductal plate and bile duct formation compared with wild-type mice
• mice exhibit a persistent ductal plate unlike wild-type mice
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embryo
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• nodal cilia are absent at E7.5 and sparse by E8.5 with variable length and morphology unlike in wild-type mice
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• floor plate cells are reduced compared to in wild-type mice
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reproductive system
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• mice exhibit genitourinary defects unlike wild-type mice
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 |
• ovaries are sometimes displaced and exhibit abnormal morphology compared to in wild-type mice
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• ovaries are sometimes displaced
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respiratory system
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• some mice exhibit variable fusion between the right lung lobes unlike wild-type mice
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cardiovascular system
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• 26% of mice exhibit partial looping
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• the direction of heart looping is reversed in 36% of mice unlike in wild-type mice
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cellular
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• mesenchymal and epithelial tissues exhibit a reduction in the number of primary cilia compared to in wild-type mice
• however, lung cells and bile ducts in the liver exhibit normal cilia
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• nodal cilia are absent at E7.5 and sparse by E8.5 with variable length and morphology unlike in wild-type mice
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digestive/alimentary system
cleft palate
(
J:154075
)
|
• in one mouse
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growth/size/body
cleft palate
(
J:154075
)
|
• in one mouse
|
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• at E18.5, the largest kidney cysts are found in the glomeruli and proximal tubules
|
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• at E18.5, mice exhibit multiple kidney cysts unlike wild-type mice
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heterotaxia
(
J:154075
)
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• mice exhibit disruption of left-right asymmetry, including reversed heart looping, outflow tract on the left, and left and right ventricle reversal, compared with wild-type mice
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• at E18.5
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endocrine/exocrine glands
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• mice develop multiple bile ducts unlike in wild-type mice
• however, mice do not develop biliary cysts
|
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• mice exhibit disruptions in the ductal plate and bile duct formation compared with wild-type mice
• mice exhibit a persistent ductal plate unlike wild-type mice
|
|
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• ovaries are sometimes displaced and exhibit abnormal morphology compared to in wild-type mice
|
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• ovaries are sometimes displaced
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craniofacial
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• mice exhibit reduced ossification of the frontal bone compared with wild-type mice
|
|
• 80% of mice exhibit hypomineralization and/or splitting of the supraoccipital bone unlike wild-type mice
|
|
• mice exhibit reduced ossification of the parietal bone compared with wild-type mice
|
|
• in one mouse
|
cleft palate
(
J:154075
)
|
• in one mouse
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limbs/digits/tail
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• 66% of mice exhibit a single extra anterior digit compared with wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Meckel syndrome | DOID:0050778 |
OMIM:PS249000 |
J:154075 | |
