Analysis Tools
mortality/aging
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• homozygous embryos are present in normal numbers 1 day before birth but following Caesarian section fail to inflate their lungs
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embryo
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• at E8.5, E9.5, E10.5 and E12.5 only the first pharyngeal arch is present unlike in wild-type mice where four pharyngeal arches are present by E10.5
• abnormalities are found in derivatives of all of the pharyngeal arch structures
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• at E11.5 only a single large aortic arch is present on each side; however, small pulmonary arteries are present
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• at E8.5, E9.5, E10.5 and E12.5 only the first pharyngeal pouch is present unlike in wild-type mice where where four pharyngeal pouches are present by E10.5
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craniofacial
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• the basioccipital and basispenoid bones are fused
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• the zygomatic arch is abnormal
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• the mandible lacks the coronoid process
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• the mandible is disproportionately short
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micrognathia
(
J:70730
)
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• at E8.5, E9.5, E10.5 and E12.5 only the first pharyngeal arch is present unlike in wild-type mice where four pharyngeal arches are present by E10.5
• abnormalities are found in derivatives of all of the pharyngeal arch structures
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• at E11.5 only a single large aortic arch is present on each side; however, small pulmonary arteries are present
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• homozygotes have abnormal facial structures
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• the upper incisors are missing or malformed in 3 of 10 homozygotes
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• the bony elements of the palatine and maxillary shelves never fuse
• at E17.5, there is variable fusion of the epithelium of the palatal shelves from nearly complete fusion to no fusion at all
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• when present outer ears are low set and abnormally folded
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• when present outer ears are low set and abnormally folded
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hearing/vestibular/ear
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• when present outer ears are low set and abnormally folded
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• when present outer ears are low set and abnormally folded
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• at E9.5, the otic vesicle appears smaller and thickened
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• semicircular canals are poorly developed
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cardiovascular system
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• at E11.5 only a single large aortic arch is present on each side; however, small pulmonary arteries are present
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• 2 of 12 homozygotes had right aortic arches
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• 1 of 12 homozygotes had a double aortic arch
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• at E12.5 the aorticopulmonary septum is absent
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immune system
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• at E10.5 and E12.5, the thymus and parathyroid primordia are absent
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endocrine/exocrine glands
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• the parathyroid gland is absent but the thyroid gland is present
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• at E10.5 and E12.5, the thymus and parathyroid primordia are absent
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homeostasis/metabolism
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• late term and neonatal homozygotes appear edematous
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respiratory system
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• at E14.5 and E17.5, the cricoid cartilage is small and fragmentary
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• at E14.5 and E17.5, the thyroid cartilage is small and fragmentary
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• at E10.5 and E12.5 the pharynx is narrow and constricted laterally
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• after a Caesarian homozygotes display a gasping reflex but fail to inflate their lungs
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skeleton
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• the basioccipital and basispenoid bones are fused
|
|
• the zygomatic arch is abnormal
|
|
• the upper incisors are missing or malformed in 3 of 10 homozygotes
|
|
• the mandible lacks the coronoid process
|
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• the mandible is disproportionately short
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micrognathia
(
J:70730
)
|
• at E14.5 and E17.5, the cricoid cartilage is small and fragmentary
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• at E14.5 and E17.5, the thyroid cartilage is small and fragmentary
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• the atlas lacks the anterior arch
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growth/size/body
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• homozygotes have abnormal facial structures
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• the upper incisors are missing or malformed in 3 of 10 homozygotes
|
|
• the bony elements of the palatine and maxillary shelves never fuse
• at E17.5, there is variable fusion of the epithelium of the palatal shelves from nearly complete fusion to no fusion at all
|
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• when present outer ears are low set and abnormally folded
|
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• when present outer ears are low set and abnormally folded
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short neck
(
J:70730
)
|
• homozygotes have a short neck region
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hematopoietic system
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• at E10.5 and E12.5, the thymus and parathyroid primordia are absent
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digestive/alimentary system
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• the bony elements of the palatine and maxillary shelves never fuse
• at E17.5, there is variable fusion of the epithelium of the palatal shelves from nearly complete fusion to no fusion at all
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| DiGeorge syndrome | DOID:11198 |
OMIM:188400 |
J:70730 | |
| velocardiofacial syndrome | DOID:12583 |
OMIM:192430 |
J:70730 | |
