ENSMUSG00000020745


Mus musculus

Features
Gene ID: ENSMUSG00000020745
  
Biological name :Pafah1b1
  
Synonyms : P63005 / Pafah1b1 / platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
  
Possible biological names infered from orthology : P43034 / platelet activating factor acetylhydrolase 1b regulatory subunit 1
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: B5
Gene start: 74673949
Gene end: 74724670
  
Corresponding Affymetrix probe sets: 10388337 (MoGene1.0st)   1417086_at (Mouse Genome 430 2.0 Array)   1427703_at (Mouse Genome 430 2.0 Array)   1439656_at (Mouse Genome 430 2.0 Array)   1448578_at (Mouse Genome 430 2.0 Array)   1460199_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000021091
Ensembl peptide - ENSMUSP00000099578
Ensembl peptide - ENSMUSP00000118231
NCBI entrez gene - 18472     See in Manteia.
MGI - MGI:109520
RefSeq - NM_013625
RefSeq Peptide - NP_038653
swissprot - P63005
swissprot - Q5SW16
swissprot - Q5SW18
Ensembl - ENSMUSG00000020745
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pafah1b1bENSDARG00000026595Danio rerio
 Q7T394ENSDARG00000032013Danio rerio
 Q9PTR5ENSGALG00000005834Gallus gallus
 P43034ENSG00000007168Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nle1 / Q8VEJ4 / Notchless protein homolog 1 / Q9NVX2* / notchless homolog 1*ENSMUSG0000002069226
Wdr5 / P61965 / WD repeat domain 5 / P61964*ENSMUSG0000002691726
Poc1a / Q8JZX3 / POC1 centriolar protein A / Q8NBT0*ENSMUSG0000002334523
Wdr5b / Q9D7H2 / WD repeat domain 5B / Q86VZ2*ENSMUSG0000003437923
Q6PE01 / Snrnp40 / U5 small nuclear ribonucleoprotein 40 kDa protein / Q96DI7* / small nuclear ribonucleoprotein U5 subunit 40*ENSMUSG0000007408821
Wdr38 / Q9D994 / WD repeat domain 38 / Q5JTN6*ENSMUSG0000003529520
Katnb1 / Q8BG40 / Katanin p80 WD40 repeat-containing subunit B1 / Q9BVA0* / katanin regulatory subunit B1*ENSMUSG0000003178720
Poc1b / Q8BHD1 / POC1 centriolar protein B / Q8TC44*ENSMUSG0000001995220
Daw1 / dynein assembly factor with WD repeats 1 / Q8N136*ENSMUSG0000005316118
Wdr61 / Q9ERF3 / WD repeat domain 61 / Q9GZS3*ENSMUSG0000006155914


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR006594  LIS1 homology motif
 IPR017252  Dynein regulator LIS1
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR020472  G-protein beta WD-40 repeat
 IPR036322  WD40-repeat-containing domain superfamily
 IPR037190  LIS1, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000132 establishment of mitotic spindle orientation IBA
 biological_processGO:0000226 microtubule cytoskeleton organization IMP
 biological_processGO:0001667 ameboidal-type cell migration IMP
 biological_processGO:0001675 acrosome assembly IMP
 biological_processGO:0001764 neuron migration ISO
 biological_processGO:0001961 positive regulation of cytokine-mediated signaling pathway IMP
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0007017 microtubule-based process IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007097 nuclear migration IBA
 biological_processGO:0007268 chemical synaptic transmission IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007405 neuroblast proliferation IMP
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007611 learning or memory IMP
 biological_processGO:0008090 retrograde axonal transport IDA
 biological_processGO:0008344 adult locomotory behavior ISO
 biological_processGO:0009306 protein secretion IMP
 biological_processGO:0010977 negative regulation of neuron projection development IEA
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0016477 cell migration IMP
 biological_processGO:0017145 stem cell division IEA
 biological_processGO:0019226 transmission of nerve impulse IMP
 biological_processGO:0021540 corpus callosum morphogenesis ISO
 biological_processGO:0021766 hippocampus development IMP
 biological_processGO:0021819 layer formation in cerebral cortex IGI
 biological_processGO:0021895 cerebral cortex neuron differentiation IEA
 biological_processGO:0021987 cerebral cortex development ISO
 biological_processGO:0030036 actin cytoskeleton organization IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031023 microtubule organizing center organization ISO
 biological_processGO:0036035 osteoclast development IMP
 biological_processGO:0040019 positive regulation of embryonic development IMP
 biological_processGO:0042249 establishment of planar polarity of embryonic epithelium IMP
 biological_processGO:0043087 regulation of GTPase activity IMP
 biological_processGO:0043622 cortical microtubule organization IMP
 biological_processGO:0045773 positive regulation of axon extension IEA
 biological_processGO:0045931 positive regulation of mitotic cell cycle IEA
 biological_processGO:0046329 negative regulation of JNK cascade IGI
 biological_processGO:0047496 vesicle transport along microtubule IGI
 biological_processGO:0048854 brain morphogenesis ISO
 biological_processGO:0050885 neuromuscular process controlling balance ISO
 biological_processGO:0051081 nuclear envelope disassembly IMP
 biological_processGO:0051130 positive regulation of cellular component organization IMP
 biological_processGO:0051301 cell division IEA
 biological_processGO:0051660 establishment of centrosome localization IEA
 biological_processGO:0051661 maintenance of centrosome location IMP
 biological_processGO:0060117 auditory receptor cell development IMP
 biological_processGO:0061003 positive regulation of dendritic spine morphogenesis IMP
 biological_processGO:0070507 regulation of microtubule cytoskeleton organization IMP
 biological_processGO:0090102 cochlea development IMP
 biological_processGO:0090176 microtubule cytoskeleton organization involved in establishment of planar polarity IMP
 biological_processGO:2000574 regulation of microtubule motor activity IBA
 cellular_componentGO:0000235 astral microtubule ISO
 cellular_componentGO:0000776 kinetochore IBA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome ISO
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005871 kinesin complex IEA
 cellular_componentGO:0005874 microtubule IBA
 cellular_componentGO:0005875 microtubule associated complex IEA
 cellular_componentGO:0005938 cell cortex IBA
 cellular_componentGO:0015630 microtubule cytoskeleton IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0031252 cell leading edge IDA
 cellular_componentGO:0031514 motile cilium IDA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0031982 vesicle IEA
 cellular_componentGO:0032420 stereocilium IDA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0090724 central region of growth cone IEA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008017 microtubule binding ISO
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0045505 dynein intermediate chain binding IEA
 molecular_functionGO:0051219 phosphoprotein binding IPI
 molecular_functionGO:0070840 dynein complex binding IBA


Pathways (from Reactome)
Pathway description
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
AURKA Activation by TPX2


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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Allelic Composition: Lrp8tm1Her/Lrp8tm1Her,Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000790 abnormal stratification in cerebral cortex "abnormal formation or pattern of the layers of the cerebral cortex " [J:64289, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

Allelic Composition: Pafah1b1tm2.2Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
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Allelic Composition: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

Allelic Composition: Pafah1b1tm2Awb/Pafah1b1tm2Awb
Genetic Background: involves: 129S/SvEv * FVB/N * NIH Black Swiss

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Ywhaetm1Awb/Ywhae+
Genetic Background: either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss)

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
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Allelic Composition: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

 MP:0000813 abnormal hippocampal laminar structure "malformed or missing layers of the laminar structure of the hippocampus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
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Allelic Composition: Lrp8tm1Her/Lrp8tm1Her,Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
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Allelic Composition: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0000821 choroid plexus hyperplasia "increased cell number in the tela choroidea of the cerebral ventricles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0000885 ectopic Purkinje cell "Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum" [MGI:tc, J:60896]
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Allelic Composition: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

 MP:0000923 abnormal roof plate morphology "malformation or absence of a transient group of neuroepithelial cells located at the dorsal midline of the neural tube that profoundly influences the development of the vertebrate central nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

Allelic Composition: Braptm1.1Yfng/Braptm1.1Yfng,Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0000934 abnormal telencephalon development "malformed or incomplete differentiation of the anterior division of the embryonic prosencephalon " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
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Allelic Composition: Cbfbtm1Tno/Cbfbtm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Pafah1b1tm2.2Awb/Pafah1b1+,Ndel1tm1.1Shr/Ndel1+
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Ndel1tm1.1Shr/Ndel1+
Genetic Background: involves: 129S6/SvEvTac

 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: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 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: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tbk1tm1Aki/Tbk1tm1Aki
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Tbk1tm1Aki/Tbk1tm1Aki
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Tbk1tm1Aki/Tbk1tm1Aki
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Braptm1.1Yfng/Braptm1.1Yfng,Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0001889 delayed brain development "the delay or slower progress of the growth and differentiation of the brain" [J:81818, il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Cbfbtm1Tno/Cbfbtm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0001932 abnormal spermiogenesis "failure of sperm cells to form or differentiate" [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: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Ywhaetm1Awb/Ywhae+
Genetic Background: either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss)

 MP:0002208 abnormal germ cell morphology "anomalous structure of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [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: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Ndel1tm1.1Shr/Ndel1+
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0003648 abnormal radial glial cell morphology "anomalous structure, number, or composition of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cbfbtm1Tno/Cbfbtm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0004046 abnormal mitosis "anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Braptm1.1Yfng/Braptm1.1Yfng,Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0004100 abnormal spinal cord interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the spinal cord" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0004182 abnormal spermiation "failure of mature spermatozoa to release from supporting Sertoli cells into the lumen of seminiferous tubules" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

 MP:0005112 abnormal anterior horn morphology "anomalous structure of the ventral gray column of the spinal cord" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0005159 azoospermia "absence of living spermatozoa " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0006009 abnormal neuronal migration "defective or impaired movement of immature neurons from germinal zones to specific positions where they will reside as they mature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Ywhaetm1Awb/Ywhae+
Genetic Background: either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * NIH Black Swiss)

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Ndel1tm1.1Shr/Ndel1+
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0006207 embryonic lethality during organogenesis "death anytime after embryo turning but before the completion of organogenesis (E9 to less than E14)" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Braptm1.1Yfng/Braptm1.1Yfng,Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0006282 abnormal posterior horn morphology "any structural anomaly of the dorsal gray matter of the spinal cord" [J:77764, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0006378 abnormal spermatogonia morphology "anomaly in the number, structure or development of the large unspecialized male germ cells that give rise to spermatocytes" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0006380 abnormal spermatid morphology "anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0008279 arrest of spermiogenesis "block in the process by which a spermatid transforms into a functional spermatozoon" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0008284 abnormal hippocampus pyramidal cell layer 
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Allelic Composition: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0008547 abnormal neocortex morphology "any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.885.213.420]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Ndel1tm1.1Shr/Ndel1+
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0008898 abnormal acrosome morphology "any structural anomaly of the cap-like structure at the anterior end of the sperm head that produces enzymes needed for egg penetration" [MESH:A05.360.490.890.820.100]
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Allelic Composition: Icosltm1Cdon/Icosltm1Cdon
Genetic Background: involves: 129S6/SvEvTac

 MP:0008948 decreased neuron number "fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 MP:0009940 abnormal hippocampus pyramidal cell morphology "any structural anomaly of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pafah1b1tm2.2Awb/Pafah1b1+,Ndel1tm1.1Shr/Ndel1+
Genetic Background: involves: 129S6/SvEvTac

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

 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: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1tm1Awb
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0011093 complete embryonic lethality at implantation "death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5)" [MGI:csmith]
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Allelic Composition: Pmp22Tr-2J/Pmp22+
Genetic Background: C57BL/6J-Pmp22Tr-2J/GrsrJ

 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: Cbfbtm1Tno/Cbfbtm1Tno
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0011155 absent hippocampus stratum oriens 
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Allelic Composition: Fasntm1Schi/Fasn+
Genetic Background: 129S7/SvEvBrd-Fasntm1Schi

 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: Pafah1b1tm2.2Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 MP:0011750 abnormal seminiferous tubule epithelium morphology "any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule" [MGI:csmith]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

 MP:0020550 multinucleated giant male germ cells "presence of large cells containing multiple nuclei formed abnormal opening of the cytoplasmic bridges that are part of normal germ cell division" [PMID:16272280, url:https://ntp.niehs.nih.gov/nnl/male_reproductive/testis/setubmgcel/index.htm]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000005447 Q61205 / Pafah1b3 / Platelet-activating factor acetylhydrolase IB subunit gamma / Q15102* / platelet activating factor acetylhydrolase 1b catalytic subunit 3*  / complex
 ENSMUSG00000064063 BC048507 / cDNA sequence BC048507 / DYNLL1* / P63167* / dynein light chain LC8-type 1*  / complex
 ENSMUSG00000027012 O88487 / Dync1i2 / Mus musculus dynein cytoplasmic 1 intermediate chain 2 (Dync1i2), transcript variant 9, mRNA. / Q13409* / dynein cytoplasmic 1 intermediate chain 2*  / complex
 ENSMUSG00000032435 Q8R1Q8 / Dync1li1 / Cytoplasmic dynein 1 light intermediate chain 1 / Q9Y6G9* / dynein cytoplasmic 1 light intermediate chain 1*  / complex
 ENSMUSG00000025410 Dctn2 / Q99KJ8 / Dynactin subunit 2 / Q13561*  / complex
 ENSMUSG00000020483 Dynll2 / Q9D0M5 / Dynein light chain 2, cytoplasmic / Q96FJ2* / dynein light chain LC8-type 2*  / complex
 ENSMUSG00000020745 P63005 / Pafah1b1 / platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 / P43034* / platelet activating factor acetylhydrolase 1b regulatory subunit 1*  / complex
 ENSMUSG00000028745 Capzb / P47757 / F-actin-capping protein subunit beta / P47756* / capping actin protein of muscle Z-line beta subunit*  / complex
 ENSMUSG00000092329 Q6PB93 / Gm20388 / predicted gene 20388 / GALNT2* / Q10471* / polypeptide N-acetylgalactosaminyltransferase 2*  / reaction
 ENSMUSG00000035770 Q6PDL0 / Dync1li2 / Cytoplasmic dynein 1 light intermediate chain 2 / O43237* / dynein cytoplasmic 1 light intermediate chain 2*  / complex
 ENSMUSG00000018707 Q9JHU4 / Dync1h1 / Cytoplasmic dynein 1 heavy chain 1 / Q14204* / dynein cytoplasmic 1 heavy chain 1*  / complex
 ENSMUSG00000028447 Dctn3 / Q9Z0Y1 / Dynactin subunit 3 / O75935*  / complex
 ENSMUSG00000031516 Dctn6 / Q9WUB4 / Dynactin subunit 6 / O00399*  / complex
 ENSMUSG00000025228 Actr1a / P61164 / Alpha-centractin / P61163* / ARP1 actin related protein 1 homolog A*  / complex
 ENSMUSG00000003452 Bicd1 / Q8BR07 / Protein bicaudal D homolog 1 / Q96G01* / BICD cargo adaptor 1*  / reaction
 ENSMUSG00000024603 Dctn4 / Q8CBY8 / Mus musculus dynactin 4 (Dctn4), transcript variant 2, mRNA. / Q9UJW0* / dynactin subunit 4*  / complex
 ENSMUSG00000003131 Q61206 / Pafah1b2 / Platelet-activating factor acetylhydrolase IB subunit beta / P68402* / platelet activating factor acetylhydrolase 1b catalytic subunit 2*  / complex
 ENSMUSG00000000420 Galnt1 / O08912 / Polypeptide N-acetylgalactosaminyltransferase 1 Polypeptide N-acetylgalactosaminyltransferase 1 soluble form / Q10472* / polypeptide N-acetylgalactosaminyltransferase 1*  / reaction
 ENSMUSG00000030704 Rab6a / P35279 / RAB6A, member RAS oncogene family / RAB6C* / RAB6D* / Q9H0N0* / P20340* / RAB6C, member RAS oncogene family* / RAB6D, member RAS oncogene family*  / reaction
 ENSMUSG00000031865 Dctn1 / O08788 / Mus musculus dynactin 1 (Dctn1), transcript variant 4, mRNA. / Q14203* / dynactin subunit 1*  / complex
 ENSMUSG00000029757 O88485 / Dync1i1 / Cytoplasmic dynein 1 intermediate chain 1 / O14576* / dynein cytoplasmic 1 intermediate chain 1*  / complex
 ENSMUSG00000041791 Capza3 / P70190 / F-actin-capping protein subunit alpha-3 / Q96KX2* / capping actin protein of muscle Z-line alpha subunit 3*  / complex
 ENSMUSG00000021076 Actr10 / Q9QZB7 / Actin-related protein 10 / Q9NZ32* / actin related protein 10 homolog*  / complex
 ENSMUSG00000030868 Dctn5 / Q9QZB9 / Dynactin subunit 5 / Q9BTE1*  / complex
 ENSMUSG00000015733 Capza2 / P47754 / F-actin-capping protein subunit alpha-2 / P47755* / capping actin protein of muscle Z-line alpha subunit 2*  / complex






 

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