ENSMUSG00000024713


Mus musculus

Features
Gene ID: ENSMUSG00000024713
  
Biological name :Pcsk5
  
Synonyms : Pcsk5 / Proprotein convertase subtilisin/kexin type 5 / Q04592
  
Possible biological names infered from orthology : Q92824
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: B
Gene start: 17432832
Gene end: 17837632
  
Corresponding Affymetrix probe sets: 10466530 (MoGene1.0st)   1424605_at (Mouse Genome 430 2.0 Array)   1437339_s_at (Mouse Genome 430 2.0 Array)   1438248_at (Mouse Genome 430 2.0 Array)   1451406_a_at (Mouse Genome 430 2.0 Array)   1452475_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025618
Ensembl peptide - ENSMUSP00000050272
NCBI entrez gene - 18552     See in Manteia.
MGI - MGI:97515
RefSeq - XM_017318080
RefSeq - NM_001163144
RefSeq - NM_001190483
RefSeq - XM_006526759
RefSeq - XM_006526760
RefSeq - XM_006526761
RefSeq - XM_011247162
RefSeq Peptide - NP_001177412
RefSeq Peptide - NP_001156616
swissprot - Q04592
swissprot - Q91VK0
Ensembl - ENSMUSG00000024713
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pcsk5aENSDARG00000067537Danio rerio
 pcsk5bENSDARG00000060518Danio rerio
 ENSGALG00000033256Gallus gallus
 ENSGALG00000015164Gallus gallus
 PCSK5ENSG00000099139Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pcsk6 / proprotein convertase subtilisin/kexin type 6 / P29122*ENSMUSG0000003051327
Furin / P23188 / P09958* / furin, paired basic amino acid cleaving enzyme*ENSMUSG0000003053020
Pcsk1 / P63239 / Neuroendocrine convertase 1 / P29120* / proprotein convertase subtilisin/kexin type 1*ENSMUSG0000002158716
Pcsk4 / P29121 / Proprotein convertase subtilisin/kexin type 4 / Q6UW60*ENSMUSG0000002013116
Pcsk7 / Q61139 / Proprotein convertase subtilisin/kexin type 7 / Q16549*ENSMUSG0000003538215
Pcsk2 / P21661 / proprotein convertase subtilisin/kexin type 2 / P16519*ENSMUSG0000002741914


Protein motifs (from Interpro)
Interpro ID Name
 IPR000209  Peptidase S8/S53 domain
 IPR000742  EGF-like domain
 IPR002884  P domain
 IPR006212  Furin-like repeat
 IPR008979  Galactose-binding-like domain superfamily
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR010909  PLAC
 IPR015500  Peptidase S8, subtilisin-related
 IPR022398  Peptidase S8, subtilisin, His-active site
 IPR023827  Peptidase S8, subtilisin, Asp-active site
 IPR023828  Peptidase S8, subtilisin, Ser-active site
 IPR032778  Growth factor receptor domain 4
 IPR032815  Peptidase S8, pro-domain
 IPR034182  Kexin/furin catalytic domain
 IPR036852  Peptidase S8/S53 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0002001 renin secretion into blood stream IEA
 biological_processGO:0003279 cardiac septum development IMP
 biological_processGO:0006465 signal peptide processing ISO
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007507 heart development IMP
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0007566 embryo implantation IMP
 biological_processGO:0009952 anterior/posterior pattern specification IMP
 biological_processGO:0016485 protein processing ISO
 biological_processGO:0016486 peptide hormone processing IDA
 biological_processGO:0019058 viral life cycle IDA
 biological_processGO:0030323 respiratory tube development IMP
 biological_processGO:0035108 limb morphogenesis IMP
 biological_processGO:0042089 cytokine biosynthetic process IDA
 biological_processGO:0043043 peptide biosynthetic process IDA
 biological_processGO:0048566 embryonic digestive tract development IMP
 biological_processGO:0048706 embryonic skeletal system development IMP
 biological_processGO:0060976 coronary vasculature development IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030141 secretory granule IDA
 molecular_functionGO:0004175 endopeptidase activity IDA
 molecular_functionGO:0004252 serine-type endopeptidase activity IDA
 molecular_functionGO:0008233 peptidase activity ISO
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042277 peptide binding IDA


Pathways (from Reactome)
Pathway description
NGF processing
Assembly of active LPL and LIPC lipase complexes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000060 delayed bone ossification "late onset of the formation of bone" [J:40203]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

 MP:0000062 increased bone density "increased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
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Allelic Composition: Pcsk1tm1b(EUCOMM)Wtsi/Pcsk1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Pcsk1tm1b(EUCOMM)Wtsi/Ics

 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Nampttm1.1(KOMP)Vlcg/Nampttm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Nampttm1.1(KOMP)Vlcg/Ucd

 MP:0000159 abnormal xiphoid process "malformed posterior tip of the sternum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:42932]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 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: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 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: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

 MP:0000480 increased number of ribs "greater than normal numbers of the pairs of bony structures that make up the body wall" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

 MP:0000492 abnormal rectum morphology "structural aberration in the terminal portion of the intestinal tube adjacent to the anus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 MP:0000520 absent kidney "missing paired organs that excrete urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

 MP:0000538 abnormal urinary bladder morphology "malformation of the inflatable musculomembranous bag for holding urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 MP:0000550 abnormal forelimb morphology "malformation of the entire anterior extremities" [MGI:tc]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 MP:0000556 abnormal hindlimb morphology "malformation of the entire posterior extremities" [MGI:tc]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0000558 abnormal tibia morphology "atructural anomaly of the medial and larger of the two bones of the lower leg" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 MP:0000592 short tail "reduced length of tail compared to control " [J:55583]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0000644 dextrocardia "cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

Allelic Composition: Pcsk5b2b1549Clo/Pcsk5b2b1549Clo
Genetic Background: C57BL/6J-Pcsk5b2b1549Clo

 MP:0000650 mesocardia "cardiac apex pointing to the middle as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

Allelic Composition: Pcsk5b2b1549Clo/Pcsk5b2b1549Clo
Genetic Background: C57BL/6J-Pcsk5b2b1549Clo

 MP:0000706 small thymus "reduced size of the thymus" [J:36561, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:31167]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

 MP:0001178 pulmonary hypoplasia "reduced size of the respiratory organ due to incomplete development of all or part of the organ " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
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Allelic Composition: Gli3Mos1/Gli3+,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 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: Rorctm1Amj/Rorctm1Amj
Genetic Background: either: (involves: 129/Sv * C57BL/6) or (involves: 129/Sv * C57BL/6 * DBA/2)

 MP:0001697 abnormal embryo size "anomalous proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 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: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kitlsl-24J/Kitlsl-24J
Genetic Background: B6;129S1-a Kitlsl-24J/GrsrJ

Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 MP:0002111 abnormal tail morphology "abnormal development of the tail resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 MP:0002367 abnormal thymus lobule morphology "anomalous structure or development of the basic structural unit of the thymus" [Pathology:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 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: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

 MP:0003036 vertebral transformation "homeotic transformation of a specific vertebrae to adopt the fate of another" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0003130 anal atresia "absence of a connection between the anal pit and the rectum" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91491]
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Allelic Composition: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

 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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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 MP:0003321 tracheoesophageal fistula "an abnormal passage between the esophagus and the trachea, acquired or congenital, often associated with esophageal atresia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

 MP:0003385 abnormal body wall "malformation in the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 MP:0003456 absent tail "completely lacking the appendage at the caudal end of the vertebral column " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

 MP:0003641 small lung "reduced size of the lung relative to normal" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95332]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
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Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 MP:0003743 abnormal facial morphology "anomalous structure or development of the face" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 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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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 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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Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0004133 heterotaxia "abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk5b2b1549Clo/Pcsk5b2b1549Clo
Genetic Background: C57BL/6J-Pcsk5b2b1549Clo

 MP:0004158 right aortic arch "the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 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: Pcsk5b2b585Clo/Pcsk5b2b585Clo
Genetic Background: C57BL/6J-Pcsk5b2b585Clo

 MP:0004509 abnormal pelvic girdle bone morphology "any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton " [MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 MP:0004651 increased thoracic vertebrae number "increased number of the thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 MP:0004653 absent caudal vertebrae "absence of all of the bony segments of the coccyx or tail; there are usually 27-30 present in rodents and only 3-5 fused vertebrae in human" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 MP:0004656 absent sacral vertebrae "absence of all of the four bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 MP:0004694 absent patella "absence of the large sesamoid bone that covers the anterior surface of the knee" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0005155 herniated intestine "protrusion of any portion of the intestine from its normal anatomical position" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

 MP:0005430 absent fibula "missing the lateral and shorter of the two bones of the lower leg" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:86196]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 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: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0005650 abnormal limb bud morphology "aberrant structure or development of any of the swellings on the trunk of the embryo that become limbs" [hdene:Howard Dene , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:61460]
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Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 MP:0008146 asymmetric rib-sternum attachment "loss of bilateral symmetry in rib attachments to the sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

 MP:0008148 abnormal rib-sternum attachment "any anomaly in the in the normal joining of the ribs to the sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

 MP:0008999 absent anus "absence of the lower opening of the digestive tract" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

 MP:0010123 increased bone mineral content "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk1tm1b(EUCOMM)Wtsi/Pcsk1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Pcsk1tm1b(EUCOMM)Wtsi/Ics

 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: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0010403 atrial septal defect "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0010413 complete atrioventricular septal defect "a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect" [http://emedicine.medscape.com]
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Allelic Composition: Pcsk5b2b1549Clo/Pcsk5b2b1549Clo
Genetic Background: C57BL/6J-Pcsk5b2b1549Clo

 MP:0010466 vascular ring "the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches" [http://emedicine.medscape.com]
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Allelic Composition: Pcsk5vcc/Pcsk5vcc
Genetic Background: involves: C57BL/6J

Allelic Composition: Pcsk5tm2.1Prat/Pcsk5vcc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0011055 abnormal respiratory motile cilium physiology "any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract; may include alterations in ciliary beating pattern or frequency" [GO:0031514, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk5b2b1549Clo/Pcsk5b2b1549Clo
Genetic Background: C57BL/6J-Pcsk5b2b1549Clo

 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: Meox2tm1(cre)Sor/0,Pcsk5tm2Prat/Pcsk5tm2.1Prat
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Rorctm1Amj/Rorctm1Amj
Genetic Background: either: (involves: 129/Sv * C57BL/6) or (involves: 129/Sv * C57BL/6 * DBA/2)

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
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Allelic Composition: Gli2tm1Alj/Gli2+,Gli3Xt-J/Gli3+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * CD-1

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Pcsk5tm1b(KOMP)Mbp/Pcsk5tm1b(KOMP)Mbp
Genetic Background: C57BL/6N-Pcsk5tm1b(KOMP)Mbp/J

 MP:0011649 immotile respiratory cilia "failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract" [MGI:csmith]
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Allelic Composition: Pcsk5b2b1549Clo/Pcsk5b2b1549Clo
Genetic Background: C57BL/6J-Pcsk5b2b1549Clo

 MP:0011665 d-loop transposition of the great arteries "complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and the great arteries are parallel rather than crossing" [PMID:17159076]
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Allelic Composition: Pcsk5b2b1549Clo/Pcsk5b2b1549Clo
Genetic Background: C57BL/6J-Pcsk5b2b1549Clo

 MP:0011667 double outlet right ventricle with atrioventricular septal defect "a form of DORV in which there is also a complete atrioventricular canal" [MGI:csmith]
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Allelic Composition: Pcsk5b2b1549Clo/Pcsk5b2b1549Clo
Genetic Background: C57BL/6J-Pcsk5b2b1549Clo

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000022579 Q9D1N2 / Gpihbp1 / GPI-anchored HDL-binding protein 1 / Q8IV16* / glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1*  / reaction
 ENSMUSG00000027859 Ngf / P01139 / Beta-nerve growth factor / P01138* / nerve growth factor*  / reaction
 ENSMUSG00000015568 Lpl / P11152 / lipoprotein lipase / P06858*  / reaction






 

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