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Symbol
Name
ID
Ednra
endothelin receptor type A
MGI:105923
Phenotype annotations related to craniofacial
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Facial asymmetry
Preauricular pit
Preauricular skin tag
Everted lower lip vermilion
Delayed eruption of primary teeth
Dental crowding
Cleft palate
Glossoptosis
Wide nasal bridge
Sparse and thin eyebrow
Sparse eyelashes
Lower eyelid coloboma
Mandibulofacial dysostosis
Micrognathia
Trismus
Hypoplasia of the maxilla
Disease(s) Associated with EDNRA
mandibulofacial dysostosis with alopecia

Mouse Phenotypes
craniofacial phenotype
abnormal pharyngeal arch artery morphology
abnormal fourth pharyngeal arch artery morphology
abnormal sixth pharyngeal arch artery morphology
abnormal third pharyngeal arch artery morphology
abnormal craniofacial morphology
abnormal craniofacial bone morphology
wide coronal suture
wide lambdoid suture
wide sagittal suture
abnormal cranium morphology
abnormal basisphenoid bone morphology
abnormal temporal bone petrous part morphology
abnormal styloid process morphology
short styloid process
abnormal alisphenoid bone morphology
abnormal pterygoid process morphology
abnormal temporal bone morphology
abnormal temporal bone squamous part morphology
abnormal zygomatic arch morphology
abnormal orbit morphology
round orbits
abnormal hyoid bone morphology
abnormal jaw morphology
abnormal alveolar process morphology
abnormal mandible morphology
cleft chin
abnormal mandibular condyloid process morphology
abnormal temporomandibular joint morphology
mandible hypoplasia
short mandible
abnormal maxilla morphology
abnormal incisor morphology
lower jaw to upper jaw transformation
micrognathia
abnormal palatine bone morphology
abnormal zygomatic bone morphology
small zygomatic bone
malocclusion
abnormal middle ear ossicle morphology
absent gonial bone
abnormal incus morphology
absent incus
abnormal malleus morphology
absent malleus
abnormal stapes morphology
absent stapes
abnormal Meckel's cartilage morphology
absent Meckel's cartilage
abnormal first pharyngeal arch morphology
small second pharyngeal arch
round face
prominent cheeks
abnormal mouth morphology
abnormal mouth floor morphology
abnormal palate morphology
tongue hypoplasia
short snout
facial cleft
shortened head
abnormal outer ear morphology
lowered ear position
abnormal ear shape
abnormal outer ear helix morphology
Availability Mouse Genotype
Ednram1Mhda/Ednram1Mhda
Ednratm1Hku/Ednratm1Hku
Ednratm1Ywa/Ednratm1Ywa
Ednratm2.1Hku/Ednratm2.1Hku
Ednratm3(Ednrb)Hku/Ednratm3(Ednrb)Hku
Ednram1Mhda/Ednra+
Ednratm2.1Hku/Ednratm3(Ednrb)Hku
Ednratm2.1Hku/Ednratm4(Ednra)Hku *
Ednratm2Hku/Ednratm3(Ednrb)Hku
Ednratm2Ywa/Ednratm2Ywa
Tg(Wnt1-cre)11Rth/0  (conditional)
Ednratm2Ywa/Ednratm2Ywa
Tg(Hand2-cre)7-1Clou/0  (conditional)
*

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