ENSMUSG00000024909


Mus musculus

Features
Gene ID: ENSMUSG00000024909
  
Biological name :Efemp2
  
Synonyms : Efemp2 / EGF-containing fibulin-like extracellular matrix protein 2 / Q9WVJ9
  
Possible biological names infered from orthology : EGF containing fibulin extracellular matrix protein 2 / O95967
  
Species: Mus musculus
  
Chr. number: 19
Strand: 1
Band: A
Gene start: 5473973
Gene end: 5481853
  
Corresponding Affymetrix probe sets: 10460603 (MoGene1.0st)   1417018_at (Mouse Genome 430 2.0 Array)   1447668_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000128414
Ensembl peptide - ENSMUSP00000133016
Ensembl peptide - ENSMUSP00000132194
Ensembl peptide - ENSMUSP00000131979
Ensembl peptide - ENSMUSP00000130003
Ensembl peptide - ENSMUSP00000129982
Ensembl peptide - ENSMUSP00000129746
Ensembl peptide - ENSMUSP00000128827
Ensembl peptide - ENSMUSP00000064719
Ensembl peptide - ENSMUSP00000126477
Ensembl peptide - ENSMUSP00000127312
Ensembl peptide - ENSMUSP00000127478
NCBI entrez gene - 58859     See in Manteia.
MGI - MGI:1891209
RefSeq - XM_006531810
RefSeq - NM_001164352
RefSeq - NM_021474
RefSeq - XM_006531807
RefSeq - XM_006531808
RefSeq - XM_006531809
RefSeq Peptide - NP_001157824
RefSeq Peptide - NP_067449
swissprot - F7AYH6
swissprot - G5E8D6
swissprot - E9Q3N9
swissprot - Q9WVJ9
swissprot - E9Q8E0
swissprot - Q542X5
swissprot - E9Q3F3
swissprot - E9Q2T8
swissprot - E9Q2A0
swissprot - E9Q1U0
swissprot - F6R0V7
swissprot - E9PYW6
swissprot - F6Z1C2
Ensembl - ENSMUSG00000024909
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 efemp2aENSDARG00000094324Danio rerio
 efemp2bENSDARG00000020811Danio rerio
 EFEMP2ENSG00000172638Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Efemp1 / Q8BPB5 / EGF-containing fibulin-like extracellular matrix protein 1 / Q12805* / EGF containing fibulin extracellular matrix protein 1*ENSMUSG0000002046752
Fbln5 / Q9WVH9 / Fibulin-5 / Q9UBX5*ENSMUSG0000002118646
Fbln1 / Q08879 / Mus musculus fibulin 1 (Fbln1), transcript variant 2, mRNA. / P23142* / fibulin 1*ENSMUSG0000000636935
Fbln2 / P37889 / Fibulin-2 / P98095*ENSMUSG0000006408034
Fbn2 / Q61555 / Fibrillin-2 Fibrillin-2 C-terminal peptide / P35556* / fibrillin 2*ENSMUSG0000002459826
Fbn1 / Q61554 / Fibrillin-1 Asprosin / P35555* / fibrillin 1*ENSMUSG0000002720426
Ltbp2 / latent transforming growth factor beta binding protein 2 / Q14767*ENSMUSG0000000202024
Ltbp4 / Q8K4G1 / Latent-transforming growth factor beta-binding protein 4 / Q8N2S1*ENSMUSG0000004048824
Ltbp1 / Q8CG19 / Latent-transforming growth factor beta-binding protein 1 / Q14766*ENSMUSG0000000187023
Ltbp3 / latent transforming growth factor beta binding protein 3 / Q9NS15*ENSMUSG0000002494019


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001881  EGF-like calcium-binding domain
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR013032  EGF-like, conserved site
 IPR018097  EGF-like calcium-binding, conserved site
 IPR026823  Complement Clr-like EGF domain
 IPR026824  EGF-containing fibulin-like extracellular matrix protein 2
 IPR037287  Fibulin 3/4/5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0048251 elastic fiber assembly IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 molecular_functionGO:0005509 calcium ion binding IEA


Pathways (from Reactome)
Pathway description
Molecules associated with elastic fibres


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000249 abnormal blood vessel physiology "anomalous function of any of the tubes that convey blood: arteries, arterioles, capallaries, venules, veins" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Efemp2tm1.2Tynk/Efemp2tm1.2Tynk
Genetic Background: involves: C57BL/6

Allelic Composition: Efemp2tm1.1Tynk/Efemp2tm1.2Tynk,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0000272 abnormal aorta morphology "structural anomaly of the main trunk of the systemic arteries" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Efemp2tm1.2Tynk/Efemp2tm1.2Tynk
Genetic Background: involves: C57BL/6

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Bhlha15tm1Skz/Bhlha15tm1Skz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Bhlha15tm1Skz/Bhlha15tm1Skz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000550 abnormal forelimb morphology "malformation of the entire anterior extremities" [MGI:tc]
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Allelic Composition: Bhlha15tm1Skz/Bhlha15tm1Skz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001183 overexpanded alveoli "expanded volume of the saclike terminal dilation of the respiratory bronchioles" [J:66345]
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Allelic Composition: Bhlha15tm1Skz/Bhlha15tm1Skz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001244 thin dermal layer "reduced thickness of the dermis" [J:65030]
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Allelic Composition: Bhlha15tm1Skz/Bhlha15tm1Skz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001344 blepharoptosis "ptosis, drooping eyelids " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:24414]
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Allelic Composition: Bhlha15tm1Skz/Bhlha15tm1Skz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Bhlha15tm1Skz/Bhlha15tm1Skz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001958 emphysema "lung disease characterized by increased size of terminal bronchioles with destructive changes in their walls and reduction in number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33629]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 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: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 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: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Efemp2tm1.1Tynk/Efemp2tm1.2Tynk,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

 MP:0003209 abnormal pulmonary elastic fiber morphology "malformation of a slender connective tissue fiber in pulmonary tissue characterized by great elasticity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003211 abnormal aorta elastic fiber morphology "malformation of a slender connective tissue fiber in aortic tissue characterized by great elasticity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.2Hiya/Efemp2tm1.2Hiya
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0003279 aneurysm "a protruding sac formed by the dilation of the wall of an artery, a vein, or the heart resulting from a weakening of the vessel wall or heart muscle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003705 abnormal hypodermis morphology "malformed or atypical condition of the innermost and thickest layer of the skin composed of loose connective tissue containing adipoctyes" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003924 herniated diaphragm "protrusion of abdominal contents into the thoracic cavity through the diaphragm" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Efemp2tm1.2Tynk/Efemp2tm1.2Tynk
Genetic Background: involves: C57BL/6

 MP:0004113 abnormal aortic arch morphology "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Efemp2tm1.1Tynk/Efemp2tm1.2Tynk,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

 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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Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0005421 loose skin "condition in which the skin hangs in folds" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bhlha15tm1Skz/Bhlha15tm1Skz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0005489 vascular smooth muscle cell hyperplasia "increased numbers of smooth muscle cells in the vascular wall" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:48446]
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Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0005592 abnormal vascular smooth muscle morphology "structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.2Hiya/Efemp2tm1.2Hiya
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0005595 abnormal vascular smooth muscle physiology "anomalous function of the nonstriated, involuntary muscle tissue of the blood vessels" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0006047 aortic valve insufficiency "the aortic valve does not close tightly enough to prevent leakage. " [smb:Susan M Bello, Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
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Allelic Composition: Efemp2tm1.1Tynk/Efemp2tm1.2Tynk,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

 MP:0006135 arterial stenosis "abnormal narrowing of the arteries" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0006263 decreased diastolic blood pressure "abnormal decrease in the pressure in the arteries between heart beats when the heart is relaxed" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:21887]
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Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0006265 increased pulse pressure "increase in the difference between systolic and diastolic blood pressure" [RGD:Rat Genome Database submission]
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Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0006278 aortic aneurysm "protruding sac formed by dilation of the aorta" [J:110586, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Efemp2tm1.1Tynk/Efemp2tm1.2Tynk,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0008418 abnormal cutaneous elastic fiber morphology "any structural anomaly of the slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0008438 abnormal cutaneous collagen fibril morphology "any structural anomaly of the connective tissue bundles in the extracellular matrix of skin tissue that are composed of collagen, and play a role in skin strength and elasticity" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0009862 abnormal aorta elastic tissue morphology "any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Efemp2tm1.2Tynk/Efemp2tm1.2Tynk
Genetic Background: involves: C57BL/6

Allelic Composition: Efemp2tm1.1Tynk/Efemp2tm1.1Tynk,Tg(Tagln-cre)1Her/0
Genetic Background: involves: C57BL/6 * SJL

Allelic Composition: Efemp2tm1.1Tynk/Efemp2tm1.2Tynk,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0009865 abnormal aorta smooth muscle morphology "any structural anomaly of the nonstriated, involuntary muscle tissue located in the wall of the aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Agtr2tm1Tin/Y,Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0009866 abnormal aorta wall morphology "any structural anomaly of the part of the aorta that encloses the luminal space" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 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: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0009869 abnormal descending aorta morphology "any strucutral anomaly of the part of the aorta extending from the arch of aorta to the point where it divides into the common iliac arteries" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0009873 abnormal aorta tunica media morphology "any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.2Hiya/Efemp2tm1.2Hiya
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0010202 focal dorsal hair loss "focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:Sanger_Karp "Submission from Natasha Karp"]
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Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0010470 ascending aorta dilation "the luminal space of the ascending aorta is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Efemp2tm1.1Tynk/Efemp2tm1.2Tynk,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0010641 descending aorta stenosis "diffuse constriction or narrowing of the descending aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010661 ascending aorta aneurysm "a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.2Hiya/Efemp2tm1.2Hiya
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Agtr2tm1Tin/Y,Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0010996 increased aorta wall thickness "increased depth of the part of the aorta that encloses the luminal space" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Agtr2tm1Tin/Y,Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Agtr1atm1Unc/Agtr1atm1Unc,Efemp2tm1.1Hiya/Efemp2tm1.2Hiya,Tg(Tagln-cre)1Her/0
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * SJL

Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

Allelic Composition: Efemp2tm1.1Chu/Efemp2+
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 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: Efemp2tm1.2Tynk/Efemp2tm1.2Tynk
Genetic Background: involves: C57BL/6

 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: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Efemp2tm1.2Hiya/Efemp2tm1.2Hiya
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Icam1tm1Bay/Icam1tm1Bay,Selptm1Bay/Selptm1Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011157 abnormal hypodermis muscle layer morphology "any structural anomaly of the skeletal muscle layer in the superficial fascia" [ISBN:0-683-40008-8]
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Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0011572 abnormal aorta bulb morphology "any structural anomaly of the portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles" [MGI:csmith, PMID:10722531]
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Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0011643 abnormal tendon collagen fibril morphology "any structural anomaly of the connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity" [MGI:csmith]
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Allelic Composition: Efemp2tm1.1Chu/Efemp2tm1.1Chu
Genetic Background: B6(SJL)-Efemp2tm1.1Chu

 MP:0020161 increased vascular endothelial cell proliferation "increase in the expansion rate of any vascular endothelial cell population by cell division" [ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Efemp2tm1.2Hiya/Efemp2tm1.2Hiya
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

 MP:0020321 increased vascular endothelial cell apoptosis "increase in the timing or the number of vascular endothelial cells undergoing programmed cell death" [ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Efemp2tm1.2Hiya/Efemp2tm1.2Hiya
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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