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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ednratm1Ywa
targeted mutation 1, Masashi Yanagisawa
MGI:1857473
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ednratm1Ywa/Ednratm1Ywa 129S/SvEv-Ednratm1Ywa MGI:2166570
hm2
Ednratm1Ywa/Ednratm1Ywa involves: 129S7/SvEvBrd MGI:2172075
hm3
Ednratm1Ywa/Ednratm1Ywa involves: 129S7/SvEvBrd * C57BL/6 * CBA MGI:3036217
cx4
Ednratm1Ywa/Ednratm1Ywa
Foxc2tm1Miu/Foxc2tm1Miu
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 MGI:3628465
cx5
Ednratm1Ywa/Ednratm1Ywa
Ednrbtm1Ywa/Ednrbtm1Ywa
involves: 129S7/SvEvBrd MGI:3036213


Genotype
MGI:2166570
hm1
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 (7 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




Genotype
MGI:2172075
hm2
Allelic
Composition
Ednratm1Ywa/Ednratm1Ywa
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednratm1Ywa mutation (2 available); any Ednra mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• the alisphenoid bones are duplicated
• the lower jaw is shortened and covered with soft tissue resembling the soft tissue of the snout
• the mandible is flattened and abnormally attached to the jugal bone by a bone that appears to be a mirror image duplicate of the jugal bone
• the mandible appears to be a mirror image duplicate of the maxilla complete with formina and palatine bones
• the incisors are present but set in only a small amount of alveolar bone and residual cartilage
• the mandible appears to be a mirror image duplicate of the maxilla complete with formina and palatine bones
• both the original and duplicate palatine bones are smaller than normal
• both the zugal bone and its mirror image duplicate are smaller than the normal jugal bone and form an abnormal joint
• the body of the Meckel's cartilage is absent and at E14.5 the rostral process is hypoplastic
• palatal rugae are abnormally present on the floor of the mouth

hearing/vestibular/ear

skeleton
• the alisphenoid bones are duplicated
• the lower jaw is shortened and covered with soft tissue resembling the soft tissue of the snout
• the mandible is flattened and abnormally attached to the jugal bone by a bone that appears to be a mirror image duplicate of the jugal bone
• the mandible appears to be a mirror image duplicate of the maxilla complete with formina and palatine bones
• the incisors are present but set in only a small amount of alveolar bone and residual cartilage
• the mandible appears to be a mirror image duplicate of the maxilla complete with formina and palatine bones
• both the original and duplicate palatine bones are smaller than normal
• both the zugal bone and its mirror image duplicate are smaller than the normal jugal bone and form an abnormal joint
• the body of the Meckel's cartilage is absent and at E14.5 the rostral process is hypoplastic

growth/size/body
• palatal rugae are abnormally present on the floor of the mouth




Genotype
MGI:3036217
hm3
Allelic
Composition
Ednratm1Ywa/Ednratm1Ywa
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednratm1Ywa mutation (2 available); any Ednra mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• the branchial arch artery patterning abnormalities result in various types of great vessel malformations
• at E12.0 - 12.5 and E13.0 - 13.5 the right dorsal aorta remains (5 out of 6 and 5 out of 5)
• at E13.0 the connection of the right dorsal aorta to the abdominal dorsal aorta persists
• in term embryos with abnormal regression of right arch artery 4 and normal regression of the right ductus caroticus, the right dorsal aorta persists and the right subclavian artery is missing or originates from the dorsal aorta
• at E12.5 both right and left ductus caroticus remain in 100% and 83% of embryos respectively
• in E11.5 embryos 50% (2/4) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 and E13.0 - 13.5 right arch artery 4 shows signs of regression including decreased diameter and expression of a transgenic lacZ marker of arterial smooth muscle (4 out of 6 and 2 out of 5, respectively)
• between E11.5 and E13.5 the fourth arch arteries are diminished
• in E11.5 embryos 50% (2/4) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 and E13.0 - 13.5 right arch artery 6 abnormally persists (4 out of 6 and 3 out of 5)
• at E13.0 in embryos where the right arch artery 4 regressed the right arch artery 6 persisted
• in E11.5 embryos 50% (2/4) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 right arch artery 3 is markedly enlarged in 2 out of 6 embryos
• at E12.5 arch arteries 3 become the dominant vessels bilaterally, accepting blood from the outflow tract
• at E12.5 the overall growth of arch arteries 3 toward the cranial direction is delayed
• at E12.5 the external carotid fails to branch off of arch arteries 3
• the right subclavian artery is missing or has a cervical origin in term embryos as a result of abnormal regression of right arch artery 4
• in term embryos with abnormal regression of right arch artery 4 and normal regression of the right ductus caroticus, the right dorsal aorta persists and the right subclavian artery is missing or originates from the dorsal aorta
• double aortic arch is found in term embryos when both the right and left arch arteries 4 abnormally regress or when left arch artery 6 abnormally regresses
• at E13.0 some embryos have extra branches from the ascending aorta
• other outflow tract abnormalities such as overriding aorta, double outlet right ventricle, and persistent truncus arteriosus are observed

craniofacial
• at E12.5 both right and left ductus caroticus remain in 100% and 83% of embryos respectively
• in E11.5 embryos 50% (2/4) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 and E13.0 - 13.5 right arch artery 4 shows signs of regression including decreased diameter and expression of a transgenic lacZ marker of arterial smooth muscle (4 out of 6 and 2 out of 5, respectively)
• between E11.5 and E13.5 the fourth arch arteries are diminished
• in E11.5 embryos 50% (2/4) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 and E13.0 - 13.5 right arch artery 6 abnormally persists (4 out of 6 and 3 out of 5)
• at E13.0 in embryos where the right arch artery 4 regressed the right arch artery 6 persisted
• in E11.5 embryos 50% (2/4) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 right arch artery 3 is markedly enlarged in 2 out of 6 embryos
• at E12.5 arch arteries 3 become the dominant vessels bilaterally, accepting blood from the outflow tract
• at E12.5 the overall growth of arch arteries 3 toward the cranial direction is delayed
• at E12.5 the external carotid fails to branch off of arch arteries 3

embryo
• at E12.5 both right and left ductus caroticus remain in 100% and 83% of embryos respectively
• in E11.5 embryos 50% (2/4) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 and E13.0 - 13.5 right arch artery 4 shows signs of regression including decreased diameter and expression of a transgenic lacZ marker of arterial smooth muscle (4 out of 6 and 2 out of 5, respectively)
• between E11.5 and E13.5 the fourth arch arteries are diminished
• in E11.5 embryos 50% (2/4) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 and E13.0 - 13.5 right arch artery 6 abnormally persists (4 out of 6 and 3 out of 5)
• at E13.0 in embryos where the right arch artery 4 regressed the right arch artery 6 persisted
• in E11.5 embryos 50% (2/4) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 right arch artery 3 is markedly enlarged in 2 out of 6 embryos
• at E12.5 arch arteries 3 become the dominant vessels bilaterally, accepting blood from the outflow tract
• at E12.5 the overall growth of arch arteries 3 toward the cranial direction is delayed
• at E12.5 the external carotid fails to branch off of arch arteries 3




Genotype
MGI:3628465
cx4
Allelic
Composition
Ednratm1Ywa/Ednratm1Ywa
Foxc2tm1Miu/Foxc2tm1Miu
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednratm1Ywa mutation (2 available); any Ednra mutation (7 available)
Foxc2tm1Miu mutation (0 available); any Foxc2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• double homozygous embryos are viable up to E10.5; however, most of them die at ~E11.5 (i.e. earlier than respective single homozygotes) due to heart failure

cardiovascular system
• at E10.5, the dorsal aortae between the second and third branchial arch arteries, and between the third and fourth arch arteries (the ductus caroticus) are closed in double homozygotes
• all 5 exceptional surviving double homozygotes (2 at E11.5 and 3 at E12.5) exhibit persistent truncus arteriosus (PTA), without ventricular septal defects (VSD) or type B interruption of the aortic arch (IAA)
• authors speculate that double homozygotes with PTA, VSD and IAA are dead at E10.5 or just after E10.5 and that the small number of double homozygotes that have PTA but not VSD nor IAA stay alive until E11.5 and E12.5
• at E11.5, all double homozygotes with impaired aorticopulmonary septation display dilated atria
• at E10.5 and E11.5, double homozygotes exhibit an enlarged pericardial space relative to double heterozygotes or single homozygotes

homeostasis/metabolism
• at E10.5 and E11.5, double homozygotes exhibit an enlarged pericardial space relative to double heterozygotes or single homozygotes




Genotype
MGI:3036213
cx5
Allelic
Composition
Ednratm1Ywa/Ednratm1Ywa
Ednrbtm1Ywa/Ednrbtm1Ywa
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednratm1Ywa mutation (2 available); any Ednra mutation (7 available)
Ednrbtm1Ywa mutation (4 available); any Ednrb mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• these double mutants highly resemble Ece1tm1Reh

cardiovascular system
• the peripheral vessels are dilated
• along with dilation of the peripheral vasculature this is consistent with cardiac failure

homeostasis/metabolism
• along with dilation of the peripheral vasculature this is consistent with cardiac failure





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last database update
08/04/2020
MGI 6.15
The Jackson Laboratory