ENSMUSG00000031616


Mus musculus
boneEdnraprocessarteryreceptorarchdevelopmentaortabranchialearshortjawmandibulardecreasedzygomaticendothelinmembranerighthypoplasianervetemporalg-proteincoupledsignalingpathwaymuscleactivitymandiblelethalitycapacityincus

Features
Gene ID: ENSMUSG00000031616
  
Biological name :Ednra
  
Synonyms : Ednra / Endothelin-1 receptor / Q61614
  
Possible biological names infered from orthology : endothelin receptor type A / P25101
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: C1
Gene start: 77663031
Gene end: 77724464
  
Corresponding Affymetrix probe sets: 10579812 (MoGene1.0st)   1433525_at (Mouse Genome 430 2.0 Array)   1440093_at (Mouse Genome 430 2.0 Array)   1451691_at (Mouse Genome 430 2.0 Array)   1460513_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000034029
NCBI entrez gene - 13617     See in Manteia.
MGI - MGI:105923
RefSeq - NM_010332
RefSeq Peptide - NP_034462
swissprot - Q61614
Ensembl - ENSMUSG00000031616
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ednraaENSDARG00000011876Danio rerio
 ednrabENSDARG00000062262Danio rerio
 EDNRAENSGALG00000010013Gallus gallus
 EDNRAENSG00000151617Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ednrb / P48302 / Endothelin receptor type B / P24530*ENSMUSG0000002212254
Nmbr / O54799 / Neuromedin-B receptor / P28336*ENSMUSG0000001986527
Grpr / P21729 / Gastrin-releasing peptide receptor / P30550*ENSMUSG0000003136426
Brs3 / O54798 / Bombesin receptor subtype-3 / P32247*ENSMUSG0000003113025
Gpr37 / Q9QY42 / Prosaposin receptor GPR37 / O15354* / G protein-coupled receptor 37*ENSMUSG0000003990423
Q99JG2 / Gpr37l1 / G protein-coupled receptor 37-like 1 / O60883*ENSMUSG0000002642421


Protein motifs (from Interpro)
Interpro ID Name
 IPR000276  G protein-coupled receptor, rhodopsin-like
 IPR000499  Endothelin receptor family
 IPR002175  Endothelin receptor A
 IPR017452  GPCR, rhodopsin-like, 7TM


Gene Ontology (GO)
anatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical structure developmentresponse to stressresponse to abiotic stimuluscell communicationcellular response to stimulusrespiratory gaseous exchangeregulation of biological qualitysystem processcellular developmental processanatomical struanatomical structure developmentresponse to strresponse to stressresponse to abiresponse to abiotic stimuluscell communicatcell communicationcellular responcellular response to stimulusrespiratory gasrespiratory gaseous exchangeregulation of bregulation of biological qualitysystem processsystem processcellular develocellular developmental process
signaling receptor activityprotein bindingsignaling receptor activityprotein bindingsignaling receptor activityprotein bindingsignaling receptor activityprotein bindingsignaling receptor activityprotein bindingsignaling receptor activityprotein bindingsignaling receptor activityprotein bindingsignaling receptor activityprotein bindingsignaling receptor activityprotein bindingsignaling receptor activityprotein bindingsignaling receptor activitysignaling receptor activityprotein bindingprotein binding
cellmembranecellmembranecellmembranecellmembranecellmembranecellmembranecellmembranecellmembranecellmembranecellmembranecellcellmembranemembrane
TypeGO IDTermEv.Code
 biological_processGO:0001569 branching involved in blood vessel morphogenesis IGI
 biological_processGO:0001666 response to hypoxia IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IGI
 biological_processGO:0007507 heart development IGI
 biological_processGO:0007585 respiratory gaseous exchange IMP
 biological_processGO:0008217 regulation of blood pressure IEA
 biological_processGO:0014032 neural crest cell development IMP
 biological_processGO:0014824 artery smooth muscle contraction IEA
 biological_processGO:0042310 vasoconstriction ISO
 biological_processGO:0048484 enteric nervous system development IEA
 biological_processGO:0060322 head development IMP
 biological_processGO:0086100 endothelin receptor signaling pathway IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity TAS
 molecular_functionGO:0004962 endothelin receptor activity IMP
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Peptide ligand-binding receptors
G alpha (q) signalling events


Phenotype (from MGI, Zfin or HPO)
craniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofacial phenotypegrowth/size phenotypehearing/ear phenotypeskeleton phenotypecardiovascular system phenotypeendocrine/exocrine gland phenotypedigestive/alimentary phenotypenervous system phenotypeintegument phenotypevision/eye phenotypebehavior/neurological phenotypehomeostasis/metabolism phenotypeimmune system phenotypehematopoietic system phenotyperespiratory system phenotypemortality/agingmuscle phenotypeembryogenesis phenotyperenal/urinary system phenotypecellular phenotypecraniofcraniofacial phenotypegrowth/growth/size phenotypehearinghearing/ear phenotypeskeletoskeleton phenotypecardiovcardiovascular system phenotypeendocriendocrine/exocrine gland phenotypedigestidigestive/alimentary phenotypenervousnervous system phenotypeintegumintegument phenotypevision/vision/eye phenotypebehaviobehavior/neurological phenotypehomeosthomeostasis/metabolism phenotypeimmune immune system phenotypehematophematopoietic system phenotyperespirarespiratory system phenotypemortalimortality/agingmuscle muscle phenotypeembryogembryogenesis phenotyperenal/urenal/urinary system phenotypecellulacellular phenotype
IDPhenotypeDefinition Genetic BG
 MP:0000022 abnormal ear shape "malformation of the pattern of the external ear" [J:65038]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0000024 lowered ear position "outer ears which are situated below the normal location " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0000029 abnormal malleus morphology "structural anomaly in the largest of the three auditory ossicles, which resembles a club or hammer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0000104 abnormal sphenoid bone morphology "malformed irregularly shaped bone of the base of the skull" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0000106 abnormal basisphenoid bone morphology "malformed base of the sphenoid bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

 MP:0000114 cleft chin "incomplete fusion of the chin; usually a fissure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42035]
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 MP:0000120 malocclusion "perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth" [J:61509]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Gsk3btm1.1Ypc/Gsk3btm1.1Ypc,Tg(Pitx2-cre)1Ych/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Gsk3btm1.1Ypc/Gsk3btm1.1Ypc,Tg(Pitx2-cre)1Ych/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

 MP:0000273 overriding aorta "congenitally mispositioned aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left." [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:67826]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0000435 shortened head "reduced anterior-posterior length of the head" [J:42035]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1/Boc

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0000452 abnormal mouth morphology "anomalous structure or development of the oral cavity" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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 MP:0000454 abnormal jaw morphology "malformation of the bony framework of the mouth where the teeth are held" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Fgfr1tm1Jpa/Fgfr1tm1Jpa,Fgfr2tm1Dor/Fgfr2tm1Dor,Twist2tm1.1(cre)Dor/Twist2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0000455 abnormal maxilla morphology "malformation of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0000458 abnormal mandible morphology "malformation of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Foxc1tm1Blh/Foxc1tm1Blh,Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Allelic Composition: Ednratm2.1Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm3(Ednrb)Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
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 MP:0000614 absent salivary gland "missing any of the saliva-secreting glands of the oral cavity" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:tc, J:54637]
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 MP:0001065 abnormal trigeminal nerve morphology "malformed chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:33038]
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 MP:0001068 abnormal mandibular nerve branching "malformed or misprojected axons of the mandibular nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]
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 MP:0001071 abnormal facial nerve morphology "malformed or misprojection of motor axons from the pons to the face" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:29973]
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 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0001284 absent vibrissae "missing whiskers" [J:18378]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0001296 macrophthalmia "increased average size of the eyes" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0001489 decreased startle reflex "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1/Boc

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Hhextm1Ngu/Hhextm1Ngu
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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 MP:0001943 abnormal respiration "anomaly in the movement of gases into and out of the lung " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1/Boc

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0002108 abnormal muscle morphology "abnormal development of muscle tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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 MP:0002116 abnormal craniofacial bone morphology "abnormal development of cranial or facial bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ednratm1Hku/Ednratm2.1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm3(Ednrb)Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0002127 abnormal cardiovascular system morphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: P2rx2tm1Ckn/P2rx2tm1Ckn,P2rx3tm1Ckn/P2rx3tm1Ckn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ednratm2Ywa/Ednratm2Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,Tg(AQP2-cre)2Dek/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

 MP:0002177 abnormal outer ear morphology "malformation or malfunction of any components of the auricles or external acoustic meatus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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 MP:0002191 abnormal artery morphology "malformation of the blood vessels that carry blood away from the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0002309 abnormal vital capacity "anomaly in the amount of air that is exhaled by a maximal expiration following a maximal inspiration" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0002311 abnormal inspiratory capacity "anomaly in the maximal volume of air that can be inspired after the end of a normal expiration" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0002338 abnormal pulmonary ventilation "anomaly in the total volume of gas per minute inspired or expired " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

Allelic Composition: Ednratm1Ywa/Ednratm1Ywa,Foxc2tm1Miu/Foxc2tm1Miu
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0002672 abnormal branchial arch artery morphology "malformation of the vessels formed within the five pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0002987 abnormal urine osmolarity "changes in the concentration of ions in the urine compared to normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:83000]
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Allelic Composition: Myf5tm1Jae/Myf5+,Myf6tm1Thbr/Myf6+
Genetic Background: involves: 129S4/SvJae

 MP:0003007 ectopic thymus "ectopic location of the thymus primordium, which normally resides in the superior mediastinum and lower part of the neck" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator, J:76015]
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 MP:0003056 abnormal hyoid bone "anomalous structure of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene, Mouse Genome Informatics Curator]
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Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2.1Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm3(Ednrb)Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0003138 absent tympanic ring "missing the bony ring at the ear canal to which the tympanic membrane is attached" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:46972]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0003139 patent ductus arteriosus "failure of the fetal connection between the aorta and pulmonary artery to close within 24 hours after birth" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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 MP:0003140 dilated atria "an expansion in the volume of one or both of the upper chambers of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa,Foxc2tm1Miu/Foxc2tm1Miu
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

 MP:0003235 abnormal alisphenoid bone morphology "malformation in either of the broad curved winglike expanses on each side of the sphenoid bone" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93183, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0003716 anteriorly rotated ears "outer ears that are positioned such that the ears are turned forward relative to the anterior-posterior body axis, but the ears emerge from the head at the usual position" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0003755 abnormal palate "anomaly in the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) " [ncbi:Matthew Mailman, NCBI request]
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 MP:0004110 transposition of great arteries "cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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 MP:0004159 double aortic arch "defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0004181 abnormal carotid artery morphology "malformation of any of the four arteries (two on each side of the neck; right and left internal carotid arteries, and right and left external carotid arteries) that deliver oxygen-rich blood from the heart to the head and brain" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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 MP:0004189 abnormal alveolar process "any structural anomaly of the thickened ridge of bone in the mandible and maxilla that holds the tooth sockets" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0004204 absent stapes "absence of the smallest and innermost of the three auditory ossicles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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 MP:0004235 abnormal masseter muscle morphology "any structural anomaly of the masticatory muscle of posterior cheek with origin from the inferior border and medial surface of the zygomatic arch, with insertion into the lateral surface of the ramus of the mandible, with nerve supply from the masseteric nerve, and whose action closes the jaw during chewing" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0004318 absent incus "absence of the middle of the three auditory ossicles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004319 absent malleus "absence of the largest of the three auditory ossicles, which resembles a club or hammer" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004423 abnormal squamosal bone morphology "any structural anomaly of the thin, platelike part of the temporal bone" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm7(Hand2)Hku/Ednra+
Genetic Background: chimera involves: 129 * C57BL/6 * ICR

 MP:0004439 absent Meckel s cartilage "absence of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ednratm2.1Hku/Ednratm2.1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004452 abnormal pterygoid process morphology "any structural anomaly of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0004468 small zygomatic bone "reduced size of the quadrilateral bone that forms the prominence of the cheek" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004469 abnormal zygomatic arch morphology "any structural anomaly of the bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0004595 abnormal mandibular condyloid process morphology "any structural anomaly of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0004739 conductive hearing loss "progressive hearing loss due to lesions in the external auditory canal or middle ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0004787 abnormal dorsal aorta morphology "any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation" [ISBN:0-914294-08-3 "Gray s Anatomy"]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa,Foxc2tm1Miu/Foxc2tm1Miu
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

 MP:0004899 absent squamosal bone "absence of the thin, plate-like part of the temporal bone" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm7(Hand2)Hku/Ednra+
Genetic Background: chimera involves: 129 * C57BL/6 * ICR

 MP:0005105 abnormal middle ear ossicle morphology "anomalous structure or development of the three small bones of the middle ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0005106 abnormal incus morphology "structural anomaly of the middle of the three auditory ossicles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83132]
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Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0005107 abnormal stapes morphology "structural anomaly of the smallest and innermost of the three auditory ossicles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83132]
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Allelic Composition: Pcdh15av-Tg2742Rpw/Pcdh15av-Tg2742Rpw
Genetic Background: FVB/N-Pcdh15av-Tg2742Rpw

Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0005249 abnormal palatine bone morphology "structural anomaly of the anteriorly located rigid section of the palate" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0005270 abnormal zygomatic bone morphology "anomalous structure of the bone that forms the prominence of the cheek" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0005272 abnormal temporal bone morphology "anomalous structure of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gsk3btm1.1Ypc/Gsk3btm1.1Ypc,Tg(Pitx2-cre)1Ych/0
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0005358 abnormal incisor morphology "structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]
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Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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 MP:0005587 abnormal Meckel s cartilage morphology "structural anomaly of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17694]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm7(Hand2)Hku/Ednra+
Genetic Background: chimera involves: 129 * C57BL/6 * ICR

 MP:0005610 increased circulating antidiuretic hormone level "greater than the normal concentration of this peptide hormone in the blood; it is normally released by the neurohypophysis to control water metabolism and balance by regulating water loss; it also contracts smooth muscle" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Myf5tm1Jae/Myf5+,Myf6tm1Thbr/Myf6+
Genetic Background: involves: 129S4/SvJae

 MP:0006019 absent tympanic membrane "missing drum membrane that forms the greater part of the lateral wall of the tympanic cavity" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0006337 abnormal first branchial arch morphology "anomaly in the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel s cartilage, trigeminal nerve, and maxillary artery" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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 MP:0006344 small second branchial arch "reduced size of the second branchial arch" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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 MP:0006354 abnormal fourth branchial arch artery morphology "any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0006355 abnormal sixth branchial arch artery morphology "any structural anomaly of the vessels formed within the sixth pair of branchial arches in embryogenesis" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0006356 abnormal third branchial arch artery morphology "any structural anomaly of the vessels formed within the third pair of branchial arches in embryogenesis" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0008023 abnormal styloid process morphology "any structural abnormality in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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 MP:0008380 abnormal gonial bone morphology "any structural abnormality of the investing bone that lies on the surface of the malleus" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm7(Hand2)Hku/Ednra+
Genetic Background: chimera involves: 129 * C57BL/6 * ICR

 MP:0008381 absent gonial bone "absence of the investing bone that normally lies on the surface of the malleus" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm7(Hand2)Hku/Ednra+
Genetic Background: chimera involves: 129 * C57BL/6 * ICR

 MP:0008797 facial cleft "a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0009142 decreased prepulse inhibition "decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0009524 absent submandibular gland "absence of either of the large major salivary glands situated beneath the mandible" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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 MP:0009800 abnormal mandibular nerve morphology "any structural anomaly of the motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0009867 abnormal ascending aorta morphology "any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0009904 tongue hypoplasia "underdevelopment of the tongue, usually due to a deficiency in the number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0010030 abnormal orbit morphology "any structural anomaly of the bony ring that supports the eyeball and supporting tissues and is formed by parts of several cranial bones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0010150 abnormal mandibule ramus morphology "any structural anomaly of the upturned perpendicular extremity of the mandible" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
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 MP:0010465 aberrant origin of the right subclavian artery "the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0010486 absent right subclavian artery "absence of one of the two subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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 MP:0010543 aorta tubular hypoplasia "a diffuse narrowing of the lumen of the aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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 MP:0010544 interrupted aorta "complete discontinuation or blockage in the aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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 MP:0010572 persistent right dorsal aorta "persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0010896 decreased lung compliance "reduced ability of the lung to distend in response to pressure without disruption, usually expressed as the unit volume of change in the lung per unit of pressure" [ISBN:070202788 "Saunders Comprehensive Veterinary Dictionary, 3rd edition"]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0010938 decreased total lung capacity "reduced volume of air contained in the lungs at the end of maximal inspiration" [MGI:csmith]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2.1Hku/Ednratm2.1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm1Hku/Ednratm2.1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2.1Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm3(Ednrb)Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm1Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2Hku/Ednratm2Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm7(Hand2)Hku/Ednra+
Genetic Background: chimera involves: 129 * C57BL/6 * ICR

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa,Foxc2tm1Miu/Foxc2tm1Miu
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

 MP:0011210 abnormal temporomandibular joint morphology "any structural anomaly of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones" [ISBN:0-683-40008-8]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0013262 abnormal mouth floor morphology "any structural morphology of the ventral area of the mouth; in organisms with a tongue, a small horseshoe-shaped region situated beneath the movable part of the tongue and above the muscular diaphragm formed by the mylohyoid muscles; a median fold of mucous membrane, the lingual frenulum, connects the inferior surface of the tongue to the floor of the mouth" [MGI:anna]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Ednratm2Ywa/Ednratm2Ywa,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0030072 round face "facial appearance is more circular than usual as viewed from the front" [HP:0000311]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030092 abnormal outer ear helix morphology "any structural anomaly of the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe" [HP:0011039]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030104 round orbits "orbits present a more circular rather than the ususal oval appearance" [MGI:anna, PMID:27671791]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030109 abnormal incudomalleolar joint morphology "any structural anomaly of the saddle-shaped synovial joint located between the incus and the malleus" [http://medical-dictionary.thefreedictionary.com/incudomalleolar+joint]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030110 incudomalleolar fusion "bony fusion of the incus and the malleus into a single structure" [MGI:anna]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0030228 absent tubotympanic recess "absence of the elongate recess derived from the first pharyngeal pouch; its distal part contributes to the formation of the tympanic membrane, its proximal part elongates to form the auditory tube, and its cavity gives rise to the tympanic cavity and mastoid antrum" [http://medicine.academic.ru/156417/tubotympanic_recess, MGI:anna]
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 MP:0030247 prominent cheeks "increased prominence or roundness of the soft tissues between the zygomata and the mandible" [HP:0000293, MGI:anna]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030258 small mandibular condyloid process "reduced size of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:anna]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0030261 abnormal temporal bone zygomatic process morphology "any structural anomaly of the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone; this process is at first directed lateralward, its two surfaces looking upward and downward; it then appears as if twisted inward upon itself, and runs forward, its surfaces now looking medialward and lateralward" [https://en.wikipedia.org/wiki/Zygomatic_process_of_temporal_bone]
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Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030284 short mandibular coronoid process "length reduction or truncation of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion)" [MGI:anna]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0030299 lower jaw to upper jaw transformation "homeotic transformation of lower jaw (mandibular) elements into upper jaw-like (maxillary) structures" [MGI:anna, PMID:22560091]
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Allelic Composition: Ednratm1Ywa/Ednratm1Ywa
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm2.1Hku/Ednratm3(Ednrb)Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0030300 upper jaw to lower jaw transformation "homeotic transformation of upper jaw (maxillary) elements into lower jaw-like (mandibular) structures" [MGI:anna, PMID:25725491]
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Allelic Composition: Ednratm6(Edn1)Hku/Ednra+
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednratm7(Hand2)Hku/Ednra+
Genetic Background: chimera involves: 129 * C57BL/6 * ICR

 MP:0030319 abnormal temporal bone petrous part morphology "any structural anomaly of the dense, pyramid-shaped portion of the temporal bone that is wedged in at the base of the skull between the sphenoid and occipital bones; directed medially, forward, and a little upward, it presents a base, an apex, three surfaces, and three angles, and houses in its interior, the components of the inner ear; the petrous portion is among the most basal elements of the skull and forms part of the endocranium" [https://en.wikipedia.org/wiki/Petrous_part_of_the_temporal_bone]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030323 short styloid process "length reduction or truncation of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments" [MGI:anna]
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Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

 MP:0030351 wide coronal suture "an abnormally increased width of the coronal suture for age-related norms" [MGI:anna]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030353 wide sagittal suture "an abnormally increased width of the sagittal suture for age-related norms" [MGI:anna]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030357 wide lambdoid suture "an abnormally increased width of the lambdoid suture for age-related norms" [MGI:anna]
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Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030395 absent incus short process "missing the short limb (crus) of the incus that, normally, fits into a depression (fossa incudis) in the epitympanic recess" [MGI:anna]
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Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

 MP:0030416 absent temporal bone zygomatic process "missing the long, arched process that projects from the lower region of the squamous part of the temporal bone and articulates with the zygomatic bone" [MGI:anna]
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Allelic Composition: Ednratm1Hku/Ednratm1Hku
Genetic Background: involves: 129 * C57BL/6 * ICR

Allelic Composition: Ednram1Mhda/Ednra+
Genetic Background: C3HeB/FeJ-Ednram1Mhda

Allelic Composition: Ednram1Mhda/Ednram1Mhda
Genetic Background: C3HeB/FeJ-Ednram1Mhda

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021367 Edn1 / P22387 / Endothelin-1 Big endothelin-1 / P05305* / endothelin 1*  / complex / reaction
 ENSMUSG00000027524 Edn3 / P48299 / Endothelin-3 / P14138*  / complex / reaction
 ENSMUSG00000028635 Edn2 / P22389 / Endothelin-2 / P20800*  / complex / reaction






 

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