Analysis Tools
mortality/aging
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• none of the homozygotes opened their mouths to breath
• all respond poorly to tapping and pinching stimuli
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cardiovascular system
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• the cumulative penetrance of outflow tract abnormalities is 100% however the type of abnormality varied
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• tubular hypoplasia of the aorta occurred in 9 out of 16 pups
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• interruption of the aorta occurs in 7 out of 16 pups
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• extra small arteries branching off the carotid arteries are found in 2 out of 9 pups
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• absence of the right subclavian artery occurred in 4 out of 9 pups
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• aortic interruption results in a dominant ductus arterious that subsequently joins the dorsal aorta
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• 6% (1/16) show persistant truncus arteriosus
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• the aorta arises from the right ventricle resulting in double outlet right ventricle (7 out of 25)
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• the aorta overrides the crest of the ventricular septum in 11 out 25 pups
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• 13% (2/16) show complete transposition of the great arteries; the aorta arises from the right ventricle (RV), while the pulmonary outflow arises from the left ventricle (LV)
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• ventricular septal defects are found in 92% (23 out of 25) of mutant embryos at E18.5
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craniofacial
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• the cartilaginous anlage of the styloid process is absent
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• at E14.5 Meckel's cartilage is absent
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cleft chin
(
J:46639
)
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• at E18.5 the mandible in some lacked fusion at the midline
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• at E18.5 the mandible is hypoplastic, highly disorganized and abnormally articulated
• membranous bone extends ventrocaudally forming a sheet-like structure that is fused to the endochondral bone
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• the palatine bone is underdeveloped
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• the jugal bone is smaller and its articulation with the mandible is abnormal
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• abnormalities are found in the neural crest derived structures of the middle ear in 100% of embryos at E18.5
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absent incus
(
J:46639
)
absent stapes
(
J:46639
)
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• the cartilaginous rudiment of the stapes is absent in 11 out of 14 embryos
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• electron microscopy at E10.5 revealed poor swelling of the mandibular arch
• mandibular arch explants from E9.5 embryos showed poor development of the tongue epithelium, teeth, and glandular tissue
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• at E10.5, the second arch is relatively small
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• fusion of the soft palate to the lateral floor of the oral cavity proximal to the squamous/respiratory epithelial boundary
• thickening of the palate, essentially preventing oral respiration
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• at E18.5 the tongue and associated muscles are severely hypoplastic
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• at E18.5 the auricles are hypoplastic (14 out of 14)
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endocrine/exocrine glands
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• at E18.5
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• at E18.5 many of the mandibular salivary glands and the submandibular glands are missing
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• the thymus is hypoplastic and rostrally displaced (14 out of 14)
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• the thymus is hypoplastic and rostrally displaced (14 out of 14)
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hearing/vestibular/ear
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• abnormalities are found in the neural crest derived structures of the middle ear in 100% of embryos at E18.5
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absent incus
(
J:46639
)
absent stapes
(
J:46639
)
|
• the cartilaginous rudiment of the stapes is absent in 11 out of 14 embryos
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• at E18.5 the auricles are hypoplastic (14 out of 14)
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• the tubotympanic recess is absent resulting in the absence of the tympanic membrane
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immune system
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• the thymus is hypoplastic and rostrally displaced (14 out of 14)
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• the thymus is hypoplastic and rostrally displaced (14 out of 14)
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muscle
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• at E18.5 the muscles and connective tissue in the anterior neck are poorly developed
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respiratory system
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• after tracheostomy to relieve mechanical asphyxia, mutant pups respond to exposure to hypoxic gas with a significant decrease in ventilatory response, in contrast under the same conditions there was a significant increase in ventilatory response in wild-type pups
• after tracheostomy to relieve mechanical asphyxia, mutant pups respond to exposure to hypercapnic gas with a slight decrease in ventilatory response, in contrast under the same conditions there was a marked increase in ventilatory response in wild-type pups
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skeleton
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• the ventral neck is sunken
• at E14.5 the cartilangenous rudiment of the hyoid bone is moved ventrorostrally and fused to a cartilaginous precursor of a cranial bone
• at E18.5 fusion occurs between the lesser horns of the hyoid bone and an area encompassing the basiphenoid bone, the pterygoid bones and the ala temporalis cartilage
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• the cartilaginous anlage of the styloid process is absent
|
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• at E14.5 Meckel's cartilage is absent
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cleft chin
(
J:46639
)
|
• at E18.5 the mandible in some lacked fusion at the midline
|
|
• at E18.5 the mandible is hypoplastic, highly disorganized and abnormally articulated
• membranous bone extends ventrocaudally forming a sheet-like structure that is fused to the endochondral bone
|
|
• the palatine bone is underdeveloped
|
|
• the jugal bone is smaller and its articulation with the mandible is abnormal
|
|
• abnormalities are found in the neural crest derived structures of the middle ear in 100% of embryos at E18.5
|
absent incus
(
J:46639
)
absent stapes
(
J:46639
)
|
• the cartilaginous rudiment of the stapes is absent in 11 out of 14 embryos
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nervous system
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• the facial nerve fails to project to the most distal aspects of the arches at E10.5 and E11.5
• ectopic fiber growth is seen on the facial nerve at E11.5
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• the maxillary branch of the trigeminal nerve shows decreased arborization within the frontonasal region at E11.5
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• the mandibular branch of the trigeminal nerve fails to project to the most distal aspects of the arches at E10.5 and E11.5
• ectopic fiber growth is seen on the mandibular branch of the trigeminal nerve at E11.5
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digestive/alimentary system
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• fusion of the soft palate to the lateral floor of the oral cavity proximal to the squamous/respiratory epithelial boundary
• thickening of the palate, essentially preventing oral respiration
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• at E18.5 the tongue and associated muscles are severely hypoplastic
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• at E18.5
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• at E18.5 many of the mandibular salivary glands and the submandibular glands are missing
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embryo
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• electron microscopy at E10.5 revealed poor swelling of the mandibular arch
• mandibular arch explants from E9.5 embryos showed poor development of the tongue epithelium, teeth, and glandular tissue
|
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• at E10.5, the second arch is relatively small
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hematopoietic system
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• the thymus is hypoplastic and rostrally displaced (14 out of 14)
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• the thymus is hypoplastic and rostrally displaced (14 out of 14)
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growth/size/body
cleft chin
(
J:46639
)
|
• at E18.5 the mandible in some lacked fusion at the midline
|
|
• fusion of the soft palate to the lateral floor of the oral cavity proximal to the squamous/respiratory epithelial boundary
• thickening of the palate, essentially preventing oral respiration
|
|
• at E18.5 the tongue and associated muscles are severely hypoplastic
|
|
• at E18.5 the auricles are hypoplastic (14 out of 14)
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cellular
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• aortic interruption results in a dominant ductus arterious that subsequently joins the dorsal aorta
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| velocardiofacial syndrome | DOID:12583 |
OMIM:192430 |
J:46639 | |
