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Symbol
Name
ID
Ednrb
endothelin receptor type B
MGI:102720
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Abnormality of enteric ganglion morphology
Aganglionic megacolon
Spastic paraparesis
Leukodystrophy
Polyneuropathy
Ataxia
Abnormal auditory evoked potentials
Intellectual disability
Global developmental delay
Autonomic dysregulation
Disease(s) Associated with EDNRB
ABCD syndrome
Hirschsprung's disease
Waardenburg syndrome type 4A

Mouse Phenotypes
nervous system phenotype
abnormal cochlear hair cell morphology
cochlear hair cell degeneration
abnormal nervous system morphology
abnormal enteric nervous system morphology
abnormal enteric neuron morphology
absent enteric neurons
abnormal brain morphology
abnormal neuromuscular synapse morphology
abnormal phrenic nerve morphology
Availability Mouse Genotype
Ednrbs-15DttMb/Ednrbs-15DttMb
Ednrbs-36Pub/Ednrbs-36Pub
Ednrbs-l/Ednrbs-l
EdnrbWS4/EdnrbWS4
Ednrbs-1Acrg/Ednrbs-9ThW
Ednrbs-1Acrg/Ednrbs-48UThc *
Ednrbtm1(tTA)Tilg/Ednrbtm3(tetO)Tilg
Ednrbtm2(rtTA)Tilg/Ednrbtm3(tetO)Tilg

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
11/07/2017
MGI 6.11
The Jackson Laboratory