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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

Micrognathia

Trismus

Hypoplasia of the maxilla

Mandibulofacial dysostosis

Facial asymmetry

Preauricular pit

Preauricular skin tag

Everted lower lip vermilion

Cleft palate

Glossoptosis

Delayed eruption of primary teeth

Dental crowding

Wide nasal bridge

Anosmia

Sparse eyelashes

Lower eyelid coloboma

Disease(s) Associated with EDNRA

mandibulofacial dysostosis with alopecia

obstructive sleep apnea

Mouse Phenotypes

craniofacial phenotype

abnormal pharyngeal arch artery morphology

abnormal fourth pharyngeal arch artery morphology

abnormal sixth pharyngeal arch artery morphology

persistent right 6th pharyngeal arch artery

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 Meckel's cartilage morphology

absent Meckel's cartilage

abnormal alisphenoid bone morphology

abnormal pterygoid process morphology

abnormal temporal bone morphology

abnormal temporal bone zygomatic process morphology

absent temporal bone zygomatic process

abnormal zygomatic arch morphology

abnormal orbit morphology

round orbits

abnormal hyoid bone morphology

abnormal jaw morphology

abnormal alveolar process morphology

abnormal incisor morphology

malocclusion

abnormal mandible morphology

cleft chin

abnormal mandibular condyloid process morphology

abnormal temporomandibular joint morphology

mandible hypoplasia

short mandible

abnormal maxilla morphology

lower jaw to upper jaw transformation

micrognathia

abnormal palatine bone morphology

abnormal zygomatic bone morphology

small zygomatic bone

abnormal middle ear ossicle morphology

abnormal incus morphology

absent incus short process

absent incus

abnormal malleus morphology

absent gonial bone

absent malleus

abnormal stapes morphology

absent stapes

abnormal first pharyngeal arch morphology

small second pharyngeal arch

abnormal facial morphology

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

Ednra^m1Mhda/Ednra^m1Mhda

Ednra^{tm1b(EUCOMM)Hmgu}/Ednra^{tm1b(EUCOMM)Hmgu}

Ednra^tm1Hku/Ednra^tm1Hku

Ednra^tm1Ywa/Ednra^tm1Ywa

Ednra^tm2.1Hku/Ednra^tm2.1Hku

Ednra^{tm3(Ednrb)Hku}/Ednra^{tm3(Ednrb)Hku}

Ednra^m1Mhda/Ednra⁺

Ednra^tm2.1Hku/Ednra^{tm3(Ednrb)Hku}

Ednra^tm2.1Hku/Ednra^{tm4(Ednra)Hku}

*

Ednra^tm2Hku/Ednra^{tm3(Ednrb)Hku}

Ednra^tm2Ywa/Ednra^tm2Ywa
H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ (conditional)

Ednra^tm2Ywa/Ednra^tm2Ywa
Tg(Hand2-cre)7-1Clou/0 (conditional)

*

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)
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