Analysis Tools
mortality/aging
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• all mice are dead prior to 4 weeks of age
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renal/urinary system
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• 13% of E18.5 embryos have duplicated kidneys and ureters
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• some embryos have abnormal winding of the ureters
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• common nephric duct is still present in E13.5 embryos while being eliminated in control embryos
• the common nephric duct in E12.5 embryos has much lower rates of apoptosis especially in the cadual segment where 51% of the wil-type cells are apoptotic versus 6% in the mutant embryos
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• many E18.5 embryos without severe kidney malformations have dilated ureters
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• 13% of E18.5 embryos have duplicated kidneys and ureters
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hydroureter
(
J:149756
)
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• 52% of E18.5 embryos have severe uni- or bilateral hydroureters
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ureterocele
(
J:149756
)
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• in severe hydroureter/hydronephrosis cases, a ureterocele is seen within the bladder, ipsilateral to the enlarged ureter and kidneys
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craniofacial
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• at E14.5, Meckel's cartilage is dysmorphic with foreshortened and mis-patterned middle processes that are abnormally fused at the distal tip
• however, the proximal arms of Meckels cartilage articulate normally with the middle ear capsule at E14.5, and proximal Meckels cartilage is specified normally in the mandibular arch at E12.5
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• defects in calvaria development at E18.5
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• dysmorphic basiosphenoid at E18.5
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• absent pterygoid processes at E18.5
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• defects in mandibular development, with a severely dysmorphic dentary bone at E18.5
• mandibular bone deposition occurs medially, leading to premature fusion of the dentary bones at E14.5
• aberrant midline expression of both Col2a1 (chondrocyte marker) and of Runx2 (osteoblast marker) in the medial mandibular arch at E12.5
• significant decrease of cell proliferation in the proximal mandibular arch at E12.5, with relatively normal cell proliferation in the distal mandibular arch
• however, the rostral processes (angular, coronoid, condylar) are present at E18.5
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• at E18.5, the distal mandibular symphysis is abnormally fused at the midline
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• mandibles are narrower and shortened, with abnormal bone deposition between the dentary bones at E18.5
• lower jaw is already undersized (shortened, narrowed) at E14.5
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• lower jaw is already shortened at E14.5
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• shortened cartilage anlagen of the premaxilla at E14.5
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• truncation of the premaxilla at E18.5
• however, the maxilla appears grossly normal
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• 45% of E18.5 embyros have micrognathia
(J:149756)
• 39% of embryos exhibit micrognathia
(J:199299)
• all micrognathic embryos also exhibit macroglossia/glossoptosis and palatal defects, including cleft palate and palatal bone abnormalities at E16.5 and E18.5
(J:199299)
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• missing palatine bones at E18.5
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• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5
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• shortened cartilage anlagen of the nasal capsule at E14.5
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• absence of the nasal capsule at E18.5
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• ~50% reduction in cell proliferation of palatal shelf tissue at E12.5
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• palatal shelves extend to the midline but do not touch and fuse
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• ~70% reduction in first pharyngeal arch cell proliferation at E10.5
• however, neural crest migration and survival is normal in the first pharyngeal arch at E9.5
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• cleft palate is noted in E18.5 embryos
(J:149756)
• ~50% of the embryos show cleft palate at E18.5
(J:199299)
• all micrognathic embryos also exhibit cleft palate
(J:199299)
• embryos without micrognathia have normal palates
(J:199299)
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• at E18.5, the tongue is disorganized, less differentiated, and smaller
• ~50% reduction of cell proliferation in the developing tongue at E12.5
• embryos without micrognathia have normal tongues
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glossoptosis
(
J:199299
)
|
• a disorganized tongue is located further back in the oral cavity at E18.5, accompanied by blockage of the oral cavity
• all micrognathic embryos also exhibit glossoptosis
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• embryos lack a tongue at E14.5
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• microglossia at E18.5
• all micrognathic embryos also exhibit microglossia at E16.5 and E18.5
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oral atresia
(
J:199299
)
|
• blockage of the oral cavity at E18.5 with a marked reduction in airway space
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nervous system
exencephaly
(
J:149756
)
|
• 23% of E18.5 embryos have exencephaly
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embryo
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• ~70% reduction in first pharyngeal arch cell proliferation at E10.5
• however, neural crest migration and survival is normal in the first pharyngeal arch at E9.5
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respiratory system
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• shortened cartilage anlagen of the nasal capsule at E14.5
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• absence of the nasal capsule at E18.5
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skeleton
| N |
• no defects in appendicular and axial skeletal development at E18.5
• normal bone and cartilage development of the body and middle ear capsule at E14.5
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|
• at E14.5, Meckel's cartilage is dysmorphic with foreshortened and mis-patterned middle processes that are abnormally fused at the distal tip
• however, the proximal arms of Meckels cartilage articulate normally with the middle ear capsule at E14.5, and proximal Meckels cartilage is specified normally in the mandibular arch at E12.5
|
|
• defects in calvaria development at E18.5
|
|
• dysmorphic basiosphenoid at E18.5
|
|
• absent pterygoid processes at E18.5
|
|
• defects in mandibular development, with a severely dysmorphic dentary bone at E18.5
• mandibular bone deposition occurs medially, leading to premature fusion of the dentary bones at E14.5
• aberrant midline expression of both Col2a1 (chondrocyte marker) and of Runx2 (osteoblast marker) in the medial mandibular arch at E12.5
• significant decrease of cell proliferation in the proximal mandibular arch at E12.5, with relatively normal cell proliferation in the distal mandibular arch
• however, the rostral processes (angular, coronoid, condylar) are present at E18.5
|
|
• at E18.5, the distal mandibular symphysis is abnormally fused at the midline
|
|
• mandibles are narrower and shortened, with abnormal bone deposition between the dentary bones at E18.5
• lower jaw is already undersized (shortened, narrowed) at E14.5
|
|
• lower jaw is already shortened at E14.5
|
|
• shortened cartilage anlagen of the premaxilla at E14.5
|
|
• truncation of the premaxilla at E18.5
• however, the maxilla appears grossly normal
|
|
• 45% of E18.5 embyros have micrognathia
(J:149756)
• 39% of embryos exhibit micrognathia
(J:199299)
• all micrognathic embryos also exhibit macroglossia/glossoptosis and palatal defects, including cleft palate and palatal bone abnormalities at E16.5 and E18.5
(J:199299)
|
|
• missing palatine bones at E18.5
|
|
• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5
|
|
• shortened cartilage anlagen of the nasal capsule at E14.5
|
|
• absence of the nasal capsule at E18.5
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vision/eye
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• hyaloids arteries are observed in E18.5 embryos
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• 23% of E18.5 embryos have failure in eyelid closure
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• neuroretinal structures are disorganized in E18.5 embryos
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• the inner nuclear layer of E18.5 embryos is hyperplastic
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growth/size/body
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• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5
|
|
• shortened cartilage anlagen of the nasal capsule at E14.5
|
|
• absence of the nasal capsule at E18.5
|
|
• ~50% reduction in cell proliferation of palatal shelf tissue at E12.5
|
|
• palatal shelves extend to the midline but do not touch and fuse
|
|
• cleft palate is noted in E18.5 embryos
(J:149756)
• ~50% of the embryos show cleft palate at E18.5
(J:199299)
• all micrognathic embryos also exhibit cleft palate
(J:199299)
• embryos without micrognathia have normal palates
(J:199299)
|
|
• at E18.5, the tongue is disorganized, less differentiated, and smaller
• ~50% reduction of cell proliferation in the developing tongue at E12.5
• embryos without micrognathia have normal tongues
|
glossoptosis
(
J:199299
)
|
• a disorganized tongue is located further back in the oral cavity at E18.5, accompanied by blockage of the oral cavity
• all micrognathic embryos also exhibit glossoptosis
|
|
• embryos lack a tongue at E14.5
|
|
• microglossia at E18.5
• all micrognathic embryos also exhibit microglossia at E16.5 and E18.5
|
oral atresia
(
J:199299
)
|
• blockage of the oral cavity at E18.5 with a marked reduction in airway space
|
digestive/alimentary system
|
• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5
|
|
• ~50% reduction in cell proliferation of palatal shelf tissue at E12.5
|
|
• palatal shelves extend to the midline but do not touch and fuse
|
|
• cleft palate is noted in E18.5 embryos
(J:149756)
• ~50% of the embryos show cleft palate at E18.5
(J:199299)
• all micrognathic embryos also exhibit cleft palate
(J:199299)
• embryos without micrognathia have normal palates
(J:199299)
|
|
• at E18.5, the tongue is disorganized, less differentiated, and smaller
• ~50% reduction of cell proliferation in the developing tongue at E12.5
• embryos without micrognathia have normal tongues
|
glossoptosis
(
J:199299
)
|
• a disorganized tongue is located further back in the oral cavity at E18.5, accompanied by blockage of the oral cavity
• all micrognathic embryos also exhibit glossoptosis
|
|
• embryos lack a tongue at E14.5
|
|
• microglossia at E18.5
• all micrognathic embryos also exhibit microglossia at E16.5 and E18.5
|
cardiovascular system
|
• hyaloids arteries are observed in E18.5 embryos
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Weissenbacher-Zweymuller syndrome | DOID:4258 |
OMIM:261800 |
J:199299 | |
