ENSMUSG00000056201


Mus musculus

Features
Gene ID: ENSMUSG00000056201
  
Biological name :Cfl1
  
Synonyms : Cfl1 / Cofilin-1 / P18760
  
Possible biological names infered from orthology : P23528
  
Species: Mus musculus
  
Chr. number: 19
Strand: 1
Band: A
Gene start: 5490455
Gene end: 5495201
  
Corresponding Affymetrix probe sets: 10460616 (MoGene1.0st)   1448346_at (Mouse Genome 430 2.0 Array)   1455138_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000112259
Ensembl peptide - ENSMUSP00000147514
NCBI entrez gene - 12631     See in Manteia.
MGI - MGI:101757
RefSeq - NM_007687
RefSeq Peptide - NP_031713
swissprot - F8WGL3
swissprot - P18760
swissprot - Q544Y7
Ensembl - ENSMUSG00000056201
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cfl1ENSDARG00000021124Danio rerio
 CFL1ENSG00000172757Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Cfl2 / P45591 / Cofilin-2 / Q9Y281*ENSMUSG0000006292978
Dstn / Q9R0P5 / Destrin / P60981* / destrin, actin depolymerizing factor*ENSMUSG0000001593242


Protein motifs (from Interpro)
Interpro ID Name
 IPR002108  Actin-depolymerising factor homology domain
 IPR017904  ADF/Cofilin
 IPR027234  Cofilin 1
 IPR029006  ADF-H/Gelsolin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000281 mitotic cytokinesis IMP
 biological_processGO:0001755 neural crest cell migration IMP
 biological_processGO:0001842 neural fold formation IMP
 biological_processGO:0006468 protein phosphorylation IDA
 biological_processGO:0006606 protein import into nucleus IEA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007015 actin filament organization IMP
 biological_processGO:0007162 negative regulation of cell adhesion IEA
 biological_processGO:0009615 response to virus IEA
 biological_processGO:0010592 positive regulation of lamellipodium assembly IEA
 biological_processGO:0010593 negative regulation of lamellipodium assembly IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0021766 hippocampus development IEA
 biological_processGO:0022604 regulation of cell morphogenesis IEA
 biological_processGO:0030010 establishment of cell polarity IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030042 actin filament depolymerization IEA
 biological_processGO:0030043 actin filament fragmentation IDA
 biological_processGO:0030307 positive regulation of cell growth IEA
 biological_processGO:0030835 negative regulation of actin filament depolymerization IEA
 biological_processGO:0030836 positive regulation of actin filament depolymerization IDA
 biological_processGO:0031915 positive regulation of synaptic plasticity IEA
 biological_processGO:0032232 negative regulation of actin filament bundle assembly IEA
 biological_processGO:0043200 response to amino acid IDA
 biological_processGO:0044794 positive regulation by host of viral process IEA
 biological_processGO:0045792 negative regulation of cell size ISO
 biological_processGO:0045862 positive regulation of proteolysis IEA
 biological_processGO:0051511 negative regulation of unidimensional cell growth IEA
 biological_processGO:0051894 positive regulation of focal adhesion assembly IEA
 biological_processGO:0060999 positive regulation of dendritic spine development IEA
 biological_processGO:0061001 regulation of dendritic spine morphogenesis IEA
 biological_processGO:0070301 cellular response to hydrogen peroxide IEA
 biological_processGO:0071347 cellular response to interleukin-1 IEA
 biological_processGO:0071354 cellular response to interleukin-6 IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:0071362 cellular response to ether IEA
 biological_processGO:0071364 cellular response to epidermal growth factor stimulus IEA
 biological_processGO:1902951 negative regulation of dendritic spine maintenance IEA
 biological_processGO:1904783 positive regulation of NMDA glutamate receptor activity IEA
 biological_processGO:1905873 positive regulation of protein localization to cell leading edge IEA
 biological_processGO:1905875 negative regulation of postsynaptic density organization IEA
 biological_processGO:1990314 cellular response to insulin-like growth factor stimulus IEA
 biological_processGO:2000146 negative regulation of cell motility IEA
 biological_processGO:2000147 positive regulation of cell motility IEA
 biological_processGO:2000784 positive regulation of establishment of cell polarity regulating cell shape IEA
 biological_processGO:2000814 positive regulation of barbed-end actin filament capping IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0015629 actin cytoskeleton IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016363 nuclear matrix IEA
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030175 filopodium IEA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0030864 cortical actin cytoskeleton IDA
 cellular_componentGO:0031012 extracellular matrix ISO
 cellular_componentGO:0031252 cell leading edge IEA
 cellular_componentGO:0031258 lamellipodium membrane IEA
 cellular_componentGO:0031966 mitochondrial membrane IEA
 cellular_componentGO:0032587 ruffle membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043197 dendritic spine IEA
 cellular_componentGO:0090732 cofilin-actin rod IEA
 cellular_componentGO:0097060 synaptic membrane IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0019903 protein phosphatase binding IEA
 molecular_functionGO:0051015 actin filament binding IEA
 molecular_functionGO:1902936 phosphatidylinositol bisphosphate binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
Show

Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

Allelic Composition: Cfl1c5/Cfl1c5
Genetic Background: involves: C57BL/6J

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

Allelic Composition: Cfl1c5/Cfl1c5
Genetic Background: involves: C57BL/6J

Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

Allelic Composition: Cfl1tm1.2Wit/Cfl1tm1.2Wit,Vangl2Lp/Vangl2Lp
Genetic Background: involves: 129 * LPT/LeJ

 MP:0000930 wavy neural tube "undulations in the embryonic neural tube" [J:37888]
Show

Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

Allelic Composition: Cfl1c5/Cfl1c5
Genetic Background: involves: C57BL/6J

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cfl1tm1.1Wit/Cfl1tm1.1Wit,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

Allelic Composition: Cfl1tm1.2Wit/Cfl1tm1.2Wit,Vangl2Lp/Vangl2Lp
Genetic Background: involves: 129 * LPT/LeJ

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

Allelic Composition: Cfl1tm1.2Wit/Cfl1tm1.2Wit,Vangl2Lp/Vangl2Lp
Genetic Background: involves: 129 * LPT/LeJ

 MP:0001700 abnormal embryo turning "atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (Mus:E8.5-E9.5) such that the curvature of the entire trunk region is reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

Allelic Composition: Cfl1tm1.2Wit/Cfl1tm1.2Wit,Vangl2Lp/Vangl2Lp
Genetic Background: involves: 129 * LPT/LeJ

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cfl1c5/Cfl1c5
Genetic Background: involves: C57BL/6J

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Cfl1c5/Cfl1c5
Genetic Background: involves: C57BL/6J

Allelic Composition: Cfl1tm1.2Wit/Cfl1tm1.2Wit,Vangl2Lp/Vangl2Lp
Genetic Background: involves: 129 * LPT/LeJ

Allelic Composition: Cfl1c5/Cfl1c5,Dstncorn1/Dstn+
Genetic Background: involves: A/WySn * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Chtf18tm1.1KhK/Chtf18tm1.2Khk,Alpltm1(cre)Nagy/Alpl+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

 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: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

Allelic Composition: Cfl1tm1.1Wit/Cfl1tm1.1Wit,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

 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: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

 MP:0002825 abnormal notochord "malformation or absence of the axial fibrocellular cord in embryos around which develops the vertebral primordia" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

 MP:0002950 abnormal neural crest cell migration "defect in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

 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: Cfl1tm1.1Wit/Cfl1tm1.1Wit,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0003424 premature neuronal precursor differentiation "earlier than normal transformation of neuronal precursor cells into neurons" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94391]
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Allelic Composition: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

 MP:0003651 abnormal axon outgrowth "defect/abnormality in the ability of an axon to extend from a neuron cell body" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:96121]
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Allelic Composition: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

 MP:0004066 abnormal Henson s node morphology "malformation of cells in the small pit at the anterior end of the primitive streak that are important in determining left-right asymmetry" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

Allelic Composition: Cfl1c5/Cfl1c5,Dstncorn1/Dstn+
Genetic Background: involves: A/WySn * C57BL/6J

 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: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

 MP:0004948 abnormal neuronal precursor proliferation "any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

 MP:0005164 abnormal response to injury "anomaly in the body s reaction to trauma, especially that by physical means" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cfl1tm1.1Wit/Cfl1tm1.1Wit,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0005222 abnormal somite size "atypical size of any of the segmental masses along the notochord of the developing embryo" [J:72325]
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Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

 MP:0005324 ascites "accumulation or retention of fluid within the peritoneal cavity" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cfl1tm1.1Wit/Cfl1tm1.1Wit,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 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: Cfl1tm1.1Wit/Cfl1tm1.1Wit,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0005657 abnormal neural plate morphology "malformation or absence of the neuroectodermal area of the embryo s dorsal surface that develops into the neural tube and neural crest" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator, J:68142]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

 MP:0006126 abnormal outflow tract development "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

Allelic Composition: Cfl1c5/Cfl1c5
Genetic Background: involves: C57BL/6J

 MP:0008059 abnormal podocyte foot process morphology "any structural anomaly 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: Cfl1tm1.1Wit/Cfl1tm1.1Wit,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0008415 abnormal neurite morphology "any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture" [PMID:12951572]
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Allelic Composition: Dstntm1.1Wit/Dstntm1.1Wit
Genetic Background: involves: BALB/cJ

 MP:0008762 embryonic lethality "death of an animal in the embryonic period (Mus: up to E14)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cfl1c5/Cfl1c5,Dstncorn1/Dstn+
Genetic Background: involves: A/WySn * C57BL/6J

 MP:0009937 abnormal neuron differentiation "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

Allelic Composition: Cfl1tm1.1Wit/Cfl1tm1.1Wit
Genetic Background: involves: 129 * C57BL/6 * SJL

 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: Cfl1tm1.1Wit/Cfl1tm1.1Wit
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

 MP:0011094 complete embryonic lethality before implantation "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
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Allelic Composition: Cfl1tm1.2Wit/Cfl1tm1.2Wit,Vangl2Lp/Vangl2Lp
Genetic Background: involves: 129 * LPT/LeJ

 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: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

Allelic Composition: Cfl1tm1.2Wit/Cfl1tm1.2Wit,Vangl2Lp/Vangl2Lp
Genetic Background: involves: 129 * LPT/LeJ

 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: Baxtm1Dlo/Baxtm1Dlo,Bcl2l1tm1Dlo/Bcl2l1tm1Dlo
Genetic Background: involves: 129P2/OlaHsd

 MP:0011380 enlarged brain ventricle "increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [MGI:smb]
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Allelic Composition: Cfl1tm1.1Wit/Cfl1tm1.1Wit
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011868 podocyte microvillus transformation "aberrant formation of numerous slender cellular projections resembling microvilli or vesicle-like structures along the apical surface of podocytes, suggestive of podocyte injury" [MGI:anna]
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Allelic Composition: Cfl1tm1.1Wit/Cfl1tm1.1Wit,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0012027 abnormal embryonic cilium location or orientation "embryonic cilia are displaced from the normal position and/or do not orient in a typical pattern" [MGI:csmith]
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Allelic Composition: Cfl1c5/Cfl1c5,Vangl2Lp/Vangl2Lp
Genetic Background: involves: C57BL/6J * LPT/LeJ

 MP:0012703 decreased embryonic neuroepithelium thickness "reduced width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [MGI:anna]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

 MP:0012728 abnormal somite border morphology "any structural anomaly of the anatomical surface separating somites; somite formation requires the physical separation of somitic tissue from the initially continuous presomitic mesoderm (PSM), coalescence of cells in the forming somite, and the establishment of a stable border between the somite and the PSM; when a somite forms in the anterior end of the PSM, an intersomitic boundary (also called a fissure, gap, or cleft) emerges, and it is rapidly followed by a mesenchymal-to-epithelial transition of cells that face a forming gap" [MGI:anna]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

 MP:0012746 abnormal neural crest cell delamination "any anomaly in the process by which a neural crest cell (NCC) physically dissociates from the neuroepithelium in the dorsal aspect of the neural tube; premigratory NCCs exist within a fully polarized epithelial layer, adjoined by adherens junctions and tight junctions; NCC delamination involves an epithelial-mesenchymal transition (EMT) during which epithelial cells are converted into migratory mesenchymal cells; EMT requires loss of apical-basal cell polarity and dissolution of tight junctions and is accompanied by changes in cytoskeletal organization and a switch in adhesive properties so that cells can separate from the neuroepithelium and emigrate" [MGI:anna]
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Allelic Composition: Prkdcdxnph/Prkdcdxnph
Genetic Background: 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000025810 Nrp1 / P97333 / Neuropilin-1 / O14786*  / complex / reaction
 ENSMUSG00000028883 O08665 / Sema3a / Semaphorin-3A / Q14563*  / complex / reaction






 

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