About   Help   FAQ
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 (24 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 E14.5 Meckel's cartilage 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
• 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 E14.5 Meckel's cartilage 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

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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/31/2023
MGI 6.22
The Jackson Laboratory