ENSMUSG00000015647


Mus musculus

Features
Gene ID: ENSMUSG00000015647
  
Biological name :Lama5
  
Synonyms : Lama5 / Laminin subunit alpha-5 / Q61001
  
Possible biological names infered from orthology : O15230
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: H4
Gene start: 180176373
Gene end: 180225859
  
Corresponding Affymetrix probe sets: 10490384 (MoGene1.0st)   1427009_at (Mouse Genome 430 2.0 Array)   1427010_s_at (Mouse Genome 430 2.0 Array)   1459614_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000015791
NCBI entrez gene - 16776     See in Manteia.
MGI - MGI:105382
RefSeq - XM_017315832
RefSeq - NM_001081171
RefSeq - XM_006500575
RefSeq - XM_017315831
RefSeq Peptide - NP_001074640
swissprot - Q61001
Ensembl - ENSMUSG00000015647
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lama5ENSDARG00000058543Danio rerio
 ENSGALG00000005321Gallus gallus
 LAMA5ENSG00000130702Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Lama3 / Q61789 / Mus musculus laminin, alpha 3 (Lama3), transcript variant 2, mRNA. / Q16787* / laminin subunit alpha 3*ENSMUSG0000002442137
Lama2 / Q60675 / Laminin subunit alpha-2 / P24043*ENSMUSG0000001989923
Lama1 / laminin subunit alpha 1 / P25391*ENSMUSG0000003279622
Lamb2 / Q61292 / Laminin subunit beta-2 / P55268*ENSMUSG0000005291113
Lama4 / P97927 / Laminin subunit alpha-4 / Q16363*ENSMUSG0000001984613
Lamc1 / laminin subunit gamma 1 / P11047*ENSMUSG0000002647812
Lamc3 / Q9R0B6 / Laminin subunit gamma-3 / Q9Y6N6*ENSMUSG0000002684012
Lamb1 / P02469 / Laminin subunit beta-1 / P07942*ENSMUSG0000000290012
Lamc2 / laminin subunit gamma 2 / Q13753*ENSMUSG000000264798
Lamb3 / Q61087 / Laminin subunit beta-3 / Q13751*ENSMUSG000000266397
Ntn4 / Q9JI33 / Netrin-4 / Q9HB63*ENSMUSG000000200195


Protein motifs (from Interpro)
Interpro ID Name
 IPR000034  Laminin IV
 IPR000742  EGF-like domain
 IPR001791  Laminin G domain
 IPR002049  Laminin EGF domain
 IPR008211  Laminin, N-terminal
 IPR008979  Galactose-binding-like domain superfamily
 IPR009254  Laminin alpha, domain I
 IPR010307  Laminin domain II
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IMP
 biological_processGO:0001738 morphogenesis of a polarized epithelium IMP
 biological_processGO:0001755 neural crest cell migration IMP
 biological_processGO:0001942 hair follicle development IMP
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007229 integrin-mediated signaling pathway IEA
 biological_processGO:0007517 muscle organ development IMP
 biological_processGO:0009887 animal organ morphogenesis IMP
 biological_processGO:0016331 morphogenesis of embryonic epithelium IMP
 biological_processGO:0016477 cell migration IEA
 biological_processGO:0030155 regulation of cell adhesion IEA
 biological_processGO:0030324 lung development IMP
 biological_processGO:0030334 regulation of cell migration IEA
 biological_processGO:0034446 substrate adhesion-dependent cell spreading IEA
 biological_processGO:0042127 regulation of cell proliferation IMP
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IMP
 biological_processGO:0045995 regulation of embryonic development IEA
 biological_processGO:0048754 branching morphogenesis of an epithelial tube IMP
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0060445 branching involved in salivary gland morphogenesis IMP
 biological_processGO:0072659 protein localization to plasma membrane IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005604 basement membrane ISO
 cellular_componentGO:0005605 basal lamina IDA
 cellular_componentGO:0005610 laminin-5 complex IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0031012 extracellular matrix IEA
 cellular_componentGO:0043083 synaptic cleft IDA
 cellular_componentGO:0043259 laminin-10 complex IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005178 integrin binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Laminin interactions
MET activates PTK2 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0000075 absent neurocranium "missing bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0000116 abnormal tooth development "anomalous formation of the teeth" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Lama5Gt1Jhm/Lama5Gt1Jhm
Genetic Background: Not Specified

Allelic Composition: Lama5tm1Jhm/Lama5+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Kdm8tm1b(EUCOMM)Wtsi/Kdm8tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kdm8tm1b(EUCOMM)Wtsi/Ics

 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0000432 abnormal head morphology "anomalous structure or development of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: ApcMin/Apc+,Dnmt3btm1Jae/Dnmt3btm1Jae,Tg(Fabp1-cre)1Jig/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * FVB/N

 MP:0000434 megacephaly "an abnormally large size of the head" [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: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0000477 abnormal intestine morphology "malformation of the digestive tube passing from the stomach to the anus" [J:48968]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0000484 abnormal pulmonary artery morphology "structrual anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, hdene:Howard Dene, Mouse Genome Informatics Curator]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0000488 abnormal intestinal epithelium morphology "anomalous structure or development of the cellular avascular layer of the digestive tube passing from the stomach to the anus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 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: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0000527 abnormal kidney development "anomalous differentiation of the paired organs responsible for urine secretion" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 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: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
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Allelic Composition: Lama4tm1Ktry/Lama4tm1Ktry,Lama5tm2Jhm/Lama5tm2Jhm,Tg(ACTA1-cre)1Mll/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Lama5Gt1Jhm/Lama5Gt1Jhm
Genetic Background: Not Specified

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0001052 abnormal muscle innervation "malfomation or misprojection of sensory or motor nerves to targets in muscle" [J:75958]
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Allelic Composition: Lama4tm1Ktry/Lama4tm1Ktry,Lama5tm2Jhm/Lama5tm2Jhm,Tg(ACTA1-cre)1Mll/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Adcyap1tm1Nms/Adcyap1tm1Nms
Genetic Background: B6.129-Adcyap1tm1Nms

Allelic Composition: Lama5tm1Jhm/Lama5tm1Jhm,Tg(ACTB-Lama5/LAMA1)1Jhm/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Lama4tm1Ktry/Lama4tm1Ktry,Lama5tm2Jhm/Lama5tm2Jhm,Tg(ACTA1-cre)1Mll/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
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Allelic Composition: Lama5Gt1Jhm/Lama5Gt1Jhm
Genetic Background: Not Specified

 MP:0001176 abnormal lung development "malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 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: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0001183 overexpanded alveoli "expanded volume of the saclike terminal dilation of the respiratory bronchioles" [J:66345]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 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: Lama4tm1Ktry/Lama4tm1Ktry,Lama5tm2Jhm/Lama5tm2Jhm,Tg(ACTA1-cre)1Mll/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 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: Lama5Gt1Jhm/Lama5Gt1Jhm
Genetic Background: Not Specified

 MP:0001711 abnormal placenta 
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 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: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 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: Adcyap1tm1Nms/Adcyap1tm1Nms
Genetic Background: B6.129-Adcyap1tm1Nms

Allelic Composition: Lama4tm1Ktry/Lama4tm1Ktry,Lama5tm2Jhm/Lama5tm2Jhm,Tg(ACTA1-cre)1Mll/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0002086 abnormal extraembryonic tissue morphology "structural abnormality or development of the membranes involved with embryonic protection and nutrition" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:40594, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Lama5Gt1Jhm/Lama5Gt1Jhm
Genetic Background: Not Specified

 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: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

Allelic Composition: Lama5Gt1Jhm/Lama5Gt1Jhm
Genetic Background: Not Specified

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: ApcMin/Apc+,Dnmt3btm1Jae/Dnmt3btm1Jae,Tg(Fabp1-cre)1Jig/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * FVB/N

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0002270 abnormal alveoli morphology "any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0002494 increased IgM "greater than normal immunoglobulin class M level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Taok2tm1.2Dkap/Taok2tm1.2Dkap
Genetic Background: B6(Cg)-Taok2tm1.2Dkap

 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0003044 impaired basement membrane formation "defect in the organization and/or placement of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0003051 curly tail "a loop or corkscrew-like curl in the tail" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003178 left pulmonary isomerism "bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0003215 renal interstitial fibrosis "formation of fibrous tissue within the interstices of the kidney as a result of repair or a reactive process" [RGD:Rat Genome Database submission]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003449 abnormal intestinal goblet cells "malformation of the unicellular mucin-secreting glands" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95282]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0003606 kidney failure "cessation of renal function" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003632 abnormal nervous system morphology 
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Allelic Composition: Lama5Gt1Jhm/Lama5Gt1Jhm
Genetic Background: Not Specified

 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: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0003722 absent ureter "missing the tube that conducts the urine from the renal pelvis to the bladder" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0004007 abnormal lung vasculature "malformation or disorganization of the blood vessels of the lung" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0004733 abnormal thoracic cavity "any structural anomaly of the cavity in the vertebrate body enclosed by the ribcage between the diaphragm and the neck, and contains the lungs, heart, thoracic aorta, pulmonary artery and its branches, thymus gland, and the respiratory airway" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0004936 abnormal ureteric bud branching morphogenesis "partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0005014 increased B cell number "greater than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Taok2tm1.2Dkap/Taok2tm1.2Dkap
Genetic Background: B6(Cg)-Taok2tm1.2Dkap

 MP:0005031 abnormal trophoblast "malformation of the mesectodermal cell layer covering the blastocyst that erodes the uterine mucosa and contributes to the formation of the placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0005161 hematuria "presence of blood in the urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:78193]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0005264 glomerulosclerosis "hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0005292 improved glucose tolerance "better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Kdm8tm1b(EUCOMM)Wtsi/Kdm8tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kdm8tm1b(EUCOMM)Wtsi/Ics

 MP:0005293 impaired glucose tolerance "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Kdm8tm1b(EUCOMM)Wtsi/Kdm8tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kdm8tm1b(EUCOMM)Wtsi/Ics

 MP:0005326 abnormal podocytes "anomalous structure of the foot processes of the epithelial cells of the glomerulus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57971]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0005327 abnormal mesangial cell "anomalous structure of the phagocytic cell in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:57971]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0005419 hypoalbuminemia "blood albumin concentration below the normal range" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0005502 abnormal urinary system physiology "functional anomaly of any of the organs involved in the production or excretion of urine " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lama5tm1Jhm/Lama5tm1Jhm,Tg(ACTB-Lama5/LAMA1)1Jhm/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Lama5mpc205H/Lama5mpc205H
Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lama5mpc205H/Lama5mpc205H
Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0008140 podocyte foot process effacement "thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0008182 decreased marginal zone B cell number "reduced number of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149]
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Allelic Composition: Taok2tm1.2Dkap/Taok2tm1.2Dkap
Genetic Background: B6(Cg)-Taok2tm1.2Dkap

 MP:0008193 abnormal marginal zone B cell physiology "abnormal function of a CD23-negative, CD21-positive B cell of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL" [CL:0000845, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Taok2tm1.2Dkap/Taok2tm1.2Dkap
Genetic Background: B6(Cg)-Taok2tm1.2Dkap

 MP:0008528 polycystic kidney "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0008803 abnormal placental labyrinth vasculature morphology "any structural anomaly in blood vessels of the layer of the placenta where embryonic and maternal blood vessels interdigitate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0009570 abnormal right lung morphology "any structural anomaly of the organ of respiration located on the right side of the body" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0009922 increased transitional stage T1 B cell number "greater number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative" [PMID:12810111]
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Allelic Composition: Taok2tm1.2Dkap/Taok2tm1.2Dkap
Genetic Background: B6(Cg)-Taok2tm1.2Dkap

 MP:0009926 decreased transitional stage T2 B cell number "reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles" [PMID:12810111]
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Allelic Composition: Taok2tm1.2Dkap/Taok2tm1.2Dkap
Genetic Background: B6(Cg)-Taok2tm1.2Dkap

 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0010412 atrioventricular septal defect "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0010460 pulmonary artery hypoplasia "underdevelopment or reduced size of the artery that arises from the right ventricle and conveys unaerated blood to the lungs, usually due to reduced cell number" [MESH:A07.231.114.715]
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Allelic Composition: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0010487 abnormal right subclavian artery morphology "any structural anomaly of the artery that 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: Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
Genetic Background: C57BL/6J-Lama5b2b2966.1Clo

 MP:0010811 decreased type II pneumocyte number "reduced number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored" [ISBN:0412046911, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", PMID:8540632]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0010817 absent type I pneumocytes "absence of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange" [PMID:20054144]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0010821 abnormal visceral pleura morphology "any structural anomaly of the pleura layer attached to and covering the lungs, and which intercalates into the fissures between the lobes" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0010898 abnormal pulmonary alveolus epithelium morphology "any structural anomaly of the epithelial layer of the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 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: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

Allelic Composition: Lama5Gt1Jhm/Lama5Gt1Jhm
Genetic Background: Not Specified

 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: Kdm8tm1b(EUCOMM)Wtsi/Kdm8tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Kdm8tm1b(EUCOMM)Wtsi/Ics

 MP:0011144 thin lung-associated mesenchyme "decreased thickness of the mesenchymal cell layer in the developing lung" [MGI:anna]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0011320 abnormal glomerular capillary morphology "any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus" [MGI:csmith]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0011348 abnormal renal glomerulus basement membrane morphology "any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter" [MGI:anna]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0011353 expanded mesangial matrix "increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells" [MGI:csmith]
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Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0011368 increased kidney apoptosis "increase in the number of cells of the kidney undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Lama5tm3Jhm/Lama5tm3Jhm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011405 tubulointerstitial nephritis "diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease" [MGI:anna]
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Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0011409 increased renal glomerulus basement membrane thickness "increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule" [MGI:anna]
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Allelic Composition: Lama5tm2Jhm/Lama5tm1Jhm,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

 MP:0011453 abnormal glomerular capillary endothelium morphology "any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms" [MGI:anna]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

 MP:0011521 decreased placental labyrinth size "reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith]
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Allelic Composition: Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic Background: Not Specified

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002900 Lamb1 / P02469 / Laminin subunit beta-1 / P07942*  / complex
 ENSMUSG00000015647 Lama5 / Q61001 / Laminin subunit alpha-5 / O15230*  / complex
 ENSMUSG00000001507 Itga3 / Q62470 / Integrin alpha-3 Integrin alpha-3 heavy chain Integrin alpha-3 light chain / P26006* / integrin subunit alpha 3*  / reaction / complex
 ENSMUSG00000025809 Itgb1 / P09055 / Integrin beta-1 / P05556* / integrin subunit beta 1*  / complex / reaction
 ENSMUSG00000020758 Itgb4 / A2A863 / Integrin beta-4 / P16144* / integrin subunit beta 4*  / complex / reaction
 ENSMUSG00000052911 Lamb2 / Q61292 / Laminin subunit beta-2 / P55268*  / complex
 ENSMUSG00000027111 Itga6 / Q61739 / Integrin alpha-6 Integrin alpha-6 heavy chain Integrin alpha-6 light chain / P23229* / integrin subunit alpha 6*  / complex / reaction
 ENSMUSG00000026479 Lamc2 / laminin subunit gamma 2 / Q13753*  / complex
 ENSMUSG00000026478 Lamc1 / laminin subunit gamma 1 / P11047*  / complex






 

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