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Phenotypes Associated with This Genotype
Genotype
MGI:2166570
Allelic
Composition
Ednratm1Ywa/Ednratm1Ywa
Genetic
Background
129S/SvEv-Ednratm1Ywa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednratm1Ywa mutation (2 available); any Ednra mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• none of the homozygotes opened their mouths to breath
• all respond poorly to tapping and pinching stimuli

cardiovascular system
• the cumulative penetrance of outflow tract abnormalities is 100% however the type of abnormality varied
• tubular hypoplasia of the aorta occurred in 9 out of 16 pups
• interruption of the aorta occurs in 7 out of 16 pups
• extra small arteries branching off the carotid arteries are found in 2 out of 9 pups
• absence of the right subclavian artery occurred in 4 out of 9 pups
• aortic interruption results in a dominant ductus arterious that subsequently joins the dorsal aorta
• 6% (1/16) show persistant truncus arteriosus
• the aorta arises from the right ventricle resulting in double outlet right ventricle (7 out of 25)
• the aorta overrides the crest of the ventricular septum in 11 out 25 pups
• 13% (2/16) show complete transposition of the great arteries
• ventricular septal defects are found in 92% (23 out of 25) of mutant embryos at E18.5

craniofacial
• the cartilaginous anlage of the styloid process is absent
• 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
• the cartilaginous rudiment of the stapes is absent in 11 out of 14 embryos
• at E14.5 Meckel's cartilage is absent
• 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
• at E10.5, the second arch is relatively small
• 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)

endocrine/exocrine glands
• at E18.5 many of the mandibular salivary glands and the submandibular glands are missing
• the thymus is hypoplastic and rostrally displaced (14 out of 14)
• the thymus is hypoplastic and rostrally displaced (14 out of 14)

hearing/vestibular/ear
• abnormalities are found in the neural crest derived structures of the middle ear in 100% of embryos at E18.5
• the cartilaginous rudiment of the stapes is absent in 11 out of 14 embryos
• at E18.5 the auricles are hypoplastic (14 out of 14)
• the tubotympanic recess is absent resulting in the absence of the tympanic membrane

immune system
• the thymus is hypoplastic and rostrally displaced (14 out of 14)
• the thymus is hypoplastic and rostrally displaced (14 out of 14)

muscle
• at E18.5 the muscles and connective tissue in the anterior neck are poorly developed

respiratory system
• 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

skeleton
• 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
• the cartilaginous anlage of the styloid process is absent
• 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
• the cartilaginous rudiment of the stapes is absent in 11 out of 14 embryos
• at E14.5 Meckel's cartilage is absent

nervous system
• 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
• the maxillary branch of the trigeminal nerve shows decreased arborization within the frontonasal region at E11.5
• 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

digestive/alimentary system
• 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 many of the mandibular salivary glands and the submandibular glands are missing

embryo
• 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
• at E10.5, the second arch is relatively small

hematopoietic system
• the thymus is hypoplastic and rostrally displaced (14 out of 14)
• the thymus is hypoplastic and rostrally displaced (14 out of 14)

growth/size/body
• 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)

cellular
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory