ENSMUSG00000057530


Mus musculus

Features
Gene ID: ENSMUSG00000057530
  
Biological name :Ece1
  
Synonyms : Ece1 / Endothelin-converting enzyme 1 / Q4PZA2
  
Possible biological names infered from orthology : P42892
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: D3
Gene start: 137862237
Gene end: 137965229
  
Corresponding Affymetrix probe sets: 10509441 (MoGene1.0st)   1434177_at (Mouse Genome 430 2.0 Array)   1441423_at (Mouse Genome 430 2.0 Array)   1455741_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000099576
Ensembl peptide - ENSMUSP00000125529
Ensembl peptide - ENSMUSP00000114671
NCBI entrez gene - 230857     See in Manteia.
MGI - MGI:1101357
RefSeq - XM_006538767
RefSeq - NM_199307
RefSeq - XM_006538765
RefSeq Peptide - NP_955011
swissprot - E0CZB7
swissprot - Q4PZA2
swissprot - A0A183ZRM3
swissprot - B1AXF8
Ensembl - ENSMUSG00000057530
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ece1ENSDARG00000061737Danio rerio
 ECE1ENSGALG00000031343Gallus gallus
 ECE1ENSG00000117298Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ece2 / O60344* / EEF1AKMT4-ECE2* / EEF1AKMT4-ECE2 readthrough* / endothelin converting enzyme 2*ENSMUSG0000002284262
Ece2 / O60344* / EEF1AKMT4-ECE2* / EEF1AKMT4-ECE2 readthrough* / endothelin converting enzyme 2*ENSMUSG0000011529362
Ecel1 / Q9JMI0 / Endothelin-converting enzyme-like 1 / O95672*ENSMUSG0000002624738
Mmel1 / membrane metallo-endopeptidase-like 1 / Q495T6* / membrane metalloendopeptidase like 1*ENSMUSG0000005818338
Mme / Q61391 / Neprilysin / P08473* / membrane metalloendopeptidase*ENSMUSG0000002782036
Phex / P70669 / Metalloendopeptidase homolog PEX / P78562* / phosphate regulating endopeptidase homolog X-linked*ENSMUSG0000005745734
Kel / Q9EQF2 / Kell blood group glycoprotein homolog / P23276* / Kell blood group, metallo-endopeptidase*ENSMUSG0000002986630


Protein motifs (from Interpro)
Interpro ID Name
 IPR000718  Peptidase M13
 IPR008753  Peptidase M13, N-terminal domain
 IPR018497  Peptidase M13, C-terminal domain
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR029733  Endothelin-converting enzyme


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001921 positive regulation of receptor recycling ISO
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0010814 substance P catabolic process ISO
 biological_processGO:0010815 bradykinin catabolic process ISO
 biological_processGO:0010816 calcitonin catabolic process ISO
 biological_processGO:0016485 protein processing IEA
 biological_processGO:0016486 peptide hormone processing IEA
 biological_processGO:0034959 endothelin maturation ISO
 biological_processGO:0042447 hormone catabolic process ISO
 biological_processGO:0042733 embryonic digit morphogenesis ISO
 biological_processGO:0043583 ear development ISO
 biological_processGO:0060037 pharyngeal system development IMP
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome ISO
 cellular_componentGO:0005794 Golgi apparatus ISS
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0033093 Weibel-Palade body ISO
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0004175 endopeptidase activity IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Peptide ligand-binding receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000040 absent middle ear ossicles "missing small bones of the tympanic cavity" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000285 abnormal cardiac valve morphology "malformation of the membranous folds of the heart that prevent reflux of fluid" [J:18048]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000299 failure of endocardial cushion closure "failure of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices" [J:29971]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000301 reduced size of endocardial cushions "smaller than normal mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:29973]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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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Allelic Composition: Zfp36tm1Pjb/Zfp36tm1Pjb
Genetic Background: B6.Cg-Zfp36tm1Pjb

 MP:0001048 absent enteric neurons "missing neurons that innervate the esophagus, stomach, small and large bowel" [Principles of Neural Science:ISBN 0-8385-8034-3, J:49471]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0001613 abnormal vasodilation "anomalous widening of the lumen of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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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Allelic Composition: Zfp36tm1Pjb/Zfp36tm1Pjb
Genetic Background: B6.Cg-Zfp36tm1Pjb

 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: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 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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Allelic Composition: Zfp36tm1Pjb/Zfp36tm1Pjb
Genetic Background: B6.Cg-Zfp36tm1Pjb

 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: Junbtm3Wag/Junbtm3Wag,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002192 hydrops fetalis "an abnormal accumulation of serous fluid in fetal tissues" [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

 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: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0002745 abnormal atrioventricular valve morphology "malformation of the valves that gate the flow of blood from the atria into the ventricles" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 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: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0003494 parathyroid hypoplasia 
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0003499 thyroid hypoplasia 
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0003798 abnormal Harderian gland pigmentation "anomalous coloring of the sebaceous gland located behind the eyeball in the orbit that excretes fluid that facilitates movement of the third eyelid" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0004157 interrupted aortic arch "complete discontinuation/blockage between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

 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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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0004460 alisphenoid bone hypoplasia "underdevelopment or reduced size in either of the broad curved wing like expanses on each side of the sphenoid bone in adults, usually due to reduced cell number; this bone may exist independently in the young" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0004475 palatine bone hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, in either of two irregularly shaped bones that form the back of the hard palate and helps to form the nasal cavity and the floor of the orbits" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0004592 small mandible "reduced size of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: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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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 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: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * 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: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * 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: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * 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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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0009388 abnormal epidermal melanocyte morphology "any structural anomaly of the cells that produce pigment in the epidermis" [ISBN-13:978-1-4051-2034-0 "The Pigmentary System, Second Edition"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0009525 abnormal submandibular duct morphology "any strucutral anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0009707 absent external auditory canal "absence of the canal that connects the outer and middle ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

 MP:0009905 absent tongue "absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0010191 abnormal choroid melanocyte morphology "any structural anomaly of the cells that produce pigment in the choroid" [ISBN-13:978-1-4051-2034-0 "The Pigmentary System, Second Edition"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0010426 abnormal heart and great artery attachment "any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 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: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * 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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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 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: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

 MP:0010720 absent sublingual duct "absence of the canals that drain the sublingual gland" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0010722 persistent cervical thymus "the solid lobe of the thymus fails to descend to the mediastinum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

 MP:0011101 partial prenatal lethality "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 fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 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: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac

 MP:0012310 persistent ductus caroticus "uni- or bilateral persistence of the segment of dorsal aorta located between the third (III) and fourth (IV) aortic arches, which normally regresses early in development; persistence of ductus caroticus with regression of third arch or fourth arch causes the internal and external carotid arteries to arise from the aortic arch on the left side" [MGI:anna]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

 MP:0030122 temporal bone squamous part hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault" [MGI:anna]
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Allelic Composition: Ccnd1tm1Wbg/Ccnd1tm1Wbg,Ccnd3tm1Pisc/Ccnd3tm1Pisc
Genetic Background: Not Specified

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021367 Edn1 / P22387 / Endothelin-1 Big endothelin-1 / P05305* / endothelin 1*  / reaction






 

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