Analysis Tools
mortality/aging
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• survive until close to birth
|
cellular
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• decrease in the percentage of cells with cilium in serum starved MEFs
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muscle
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• major disruption to the organization of the medial and lateral myotome
|
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• major disruption to the organization of the medial and lateral dermomyotome
|
skeleton
|
• loss or truncation of several major bones of the skull
|
|
• appears to be absent
|
|
• intraparietal bones are severely hypoplastic
|
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• appears to be absent
|
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• severe
|
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• mandible rests at a wider angle resulting in an open bite in embryos
|
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• truncated
|
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• misshapen and truncated
|
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• misshapen and truncated
|
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• truncated
|
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• reduced
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polyphalangy
(
J:181888
)
|
• digit 1 is triphalangeal rather than biphalangeal
|
absent tibia
(
J:181888
)
|
• tibial agenesis is consistently seen
|
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• partially split
|
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• marked branching
|
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• marked
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rib fusion
(
J:181888
)
|
• marked
|
short ribs
(
J:181888
)
|
• lack of curvature
|
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• disordered arrangements
|
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• ossification centers are misaligned
|
vision/eye
anophthalmia
(
J:181888
)
|
• in most embryos
|
embryo
|
• fewer ciliated mesenchymal cells in the limbs at E10.5
• decrease is more marked on the mesenchyme than in the epithelium
|
|
• bifurcation and incomplete separation of adjacent somite segments at E10.5 and E11.5
|
limbs/digits/tail
polyphalangy
(
J:181888
)
|
• digit 1 is triphalangeal rather than biphalangeal
|
|
• an ectopic digit is often seen anterior to digit 1
• ectopic digit tips generated by branching at the joints are sometimes present
|
polydactyly
(
J:181888
)
|
• fore and hindlimb polydactyly
• an ectopic digit is often seen anterior to digit 1
• ectopic digit tips generated by branching at the joints are sometimes present
|
absent tibia
(
J:181888
)
|
• tibial agenesis is consistently seen
|
|
• fewer ciliated mesenchymal cells in the limbs at E10.5
• decrease is more marked on the mesenchyme than in the epithelium
|
|
• wider limb paddle at E10.5
|
nervous system
exencephaly
(
J:181888
)
|
• almost completely penetrant at E17.5-E18.5
|
craniofacial
|
• loss or truncation of several major bones of the skull
|
|
• appears to be absent
|
|
• intraparietal bones are severely hypoplastic
|
|
• appears to be absent
|
|
• severe
|
|
• mandible rests at a wider angle resulting in an open bite in embryos
|
|
• truncated
|
|
• misshapen and truncated
|
|
• misshapen and truncated
|
|
• truncated
|
|
• reduced
|
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• failure in the medial and lateral nasal processes to meet and fuse with each other and with the maxilla at E11.5, E12.5, and E15.5
|
|
• in some cases the shelves meet but fail to fuse at E15.5
|
short face
(
J:181888
)
|
• overall truncation of the upper face
|
|
• severe bilateral cleft lip
|
cleft palate
(
J:181888
)
|
• palatal shelves fail to extend vertically to the tongue at E13.5 but rather appear to crowd the oral cavity above the tongue
|
hearing/vestibular/ear
|
• malformed
|
digestive/alimentary system
|
• in some cases the shelves meet but fail to fuse at E15.5
|
cleft palate
(
J:181888
)
|
• palatal shelves fail to extend vertically to the tongue at E13.5 but rather appear to crowd the oral cavity above the tongue
|
growth/size/body
|
• in some cases the shelves meet but fail to fuse at E15.5
|
short face
(
J:181888
)
|
• overall truncation of the upper face
|
|
• severe bilateral cleft lip
|
cleft palate
(
J:181888
)
|
• palatal shelves fail to extend vertically to the tongue at E13.5 but rather appear to crowd the oral cavity above the tongue
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| ciliopathy | DOID:0060340 | J:181888 | ||
