ENSMUSG00000021224


Mus musculus

Features
Gene ID: ENSMUSG00000021224
  
Biological name :Numb
  
Synonyms : Numb / NUMB, endocytic adaptor protein / Q9QZS3
  
Possible biological names infered from orthology : P49757
  
Species: Mus musculus
  
Chr. number: 12
Strand: -1
Band: D1
Gene start: 83794034
Gene end: 83921934
  
Corresponding Affymetrix probe sets: 10401382 (MoGene1.0st)   1416891_at (Mouse Genome 430 2.0 Array)   1425368_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000117899
Ensembl peptide - ENSMUSP00000119303
Ensembl peptide - ENSMUSP00000152499
Ensembl peptide - ENSMUSP00000122977
Ensembl peptide - ENSMUSP00000122960
Ensembl peptide - ENSMUSP00000122597
Ensembl peptide - ENSMUSP00000021647
Ensembl peptide - ENSMUSP00000082311
Ensembl peptide - ENSMUSP00000105927
Ensembl peptide - ENSMUSP00000113591
Ensembl peptide - ENSMUSP00000116863
NCBI entrez gene - 18222     See in Manteia.
MGI - MGI:107423
RefSeq - XM_006515574
RefSeq - XM_006515577
RefSeq - XM_006515573
RefSeq - XM_006515572
RefSeq - XM_006515576
RefSeq - XM_006515575
RefSeq - NM_001136075
RefSeq - NM_001272055
RefSeq - NM_001272056
RefSeq - NM_010949
RefSeq - XM_011244012
RefSeq - XM_006515578
RefSeq Peptide - NP_001258985
RefSeq Peptide - NP_001129547
RefSeq Peptide - NP_001258984
RefSeq Peptide - NP_035079
swissprot - Q9QZS3
swissprot - Q05BE7
swissprot - D3Z7J1
swissprot - A0A1Y7VJJ7
swissprot - F8WJ71
swissprot - D3Z1E8
swissprot - D3Z549
swissprot - D3Z7I6
Ensembl - ENSMUSG00000021224
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NUMBENSG00000133961Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Numbl / O08919 / Numb-like protein / Q9Y6R0* / NUMB like, endocytic adaptor protein*ENSMUSG0000006316051
Q8C142 / Ldlrap1 / low density lipoprotein receptor adaptor protein 1 / Q5SW96*ENSMUSG0000003729512
Gulp1 / Q8K2A1 / PTB domain-containing engulfment adapter protein 1 / Q9UBP9* / GULP, engulfment adaptor PTB domain containing 1*ENSMUSG0000005687011


Protein motifs (from Interpro)
Interpro ID Name
 IPR006020  PTB/PI domain
 IPR010449  NUMB domain
 IPR011993  PH-like domain superfamily
 IPR016698  Numb/numb-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007405 neuroblast proliferation IGI
 biological_processGO:0007409 axonogenesis IMP
 biological_processGO:0021670 lateral ventricle development IMP
 biological_processGO:0021849 neuroblast division in subventricular zone IMP
 biological_processGO:0030335 positive regulation of cell migration ISO
 biological_processGO:0030900 forebrain development IMP
 biological_processGO:0034332 adherens junction organization IGI
 biological_processGO:0050769 positive regulation of neurogenesis IMP
 biological_processGO:1903077 negative regulation of protein localization to plasma membrane ISO
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0019897 extrinsic component of plasma membrane IDA
 cellular_componentGO:0030136 clathrin-coated vesicle ISO
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0045177 apical part of cell IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008013 beta-catenin binding IPI
 molecular_functionGO:0045294 alpha-catenin binding IPI
 molecular_functionGO:0045296 cadherin binding ISO


Pathways (from Reactome)
Pathway description
Recycling pathway of L1
Degradation of GLI1 by the proteasome
Hedgehog on state


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0000364 abnormal vascular regression "premature regression or persistence of vessels programmed to regress and/or loss of vessels not programmed to regress" [smb:Susan M. Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 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: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0000792 abnormal cortical marginal zone morphology 
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 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: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 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: Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz,Tg(Nes-cre/Esr1*)4Ynj/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000822 abnormal brain ventricle morphology "malformed or absent fluid filled cavities of the cerebrum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0000823 abnormal lateral ventricle morphology "malformation or absence of cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

Allelic Composition: Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz,Tg(Nes-cre/Esr1*)4Ynj/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0000854 abnormal cerebellum development "malformed or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills " [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: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0000864 abnormal vermis "malformation in the narrow middle zone between the two hemispheres of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0000872 abnormal external granule cell layer "malformation of the transient layer of the cerebellar cortex which is composed of the dividing and migrating granule cells" [tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0000875 abnormal cerebellar Purkinje cell layer "any malformation or absence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0000890 thin cerebellar molecular layer "reduced width of the outer of the three cortical layers of the cerebellum" [J:46854]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 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: Tc/T+
Genetic Background: Not Specified

Allelic Composition: Numbtm1.1Ynj/Numbtm1.1Ynj
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0000936 small telencephalic vesicles "reduced size of the paired diverticula of the telencephalon, from which the forebrain develops" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
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Allelic Composition: Numbtm1.1Ynj/Numbtm1.1Ynj
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0000951 sporadic seizures "occasional seizures occuring at irregular intervals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0000961 abnormal dorsal root ganglia morphology "malformed group of nerve cell bodies of each segmental nerve projecting from the spinal cord " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 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: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0001361 social withdrawal "mice remain physically distant, do not sleep in piles with cagemates" [J:57125]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0001408 stereotypic behavior "repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [What s wrong with my mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Pde4dtm2Mct/Pde4dtm2Mct
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Numbtm1.1Ynj/Numbtm1.1Ynj
Genetic Background: involves: 129X1/SvJ * FVB/N

 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: SfnEr/Sfn+
Genetic Background: B6CBACa Aw-J/A-SfnEr/J

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 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: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0001963 abnormal hearing "anomaly in the ability to receive auditory stimuli" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0002084 abnormal developmental patterning "abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 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: Tc/T+
Genetic Background: Not Specified

 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: Pde4dtm2Mct/Pde4dtm2Mct
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Pde4dtm2Mct/Pde4dtm2Mct
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

Allelic Composition: Numbtm1Ynj/Numbtm1Ynj
Genetic Background: involves: 129X1/SvJ

 MP:0002196 acallosal "absence of the commissural plate interconnecting the cortical hemispheres of the brain" [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: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0002645 abnormal cholesterol absorption "anomalous ability of the body to take in 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: Npc1l1tm1a(EUCOMM)Hmgu/Npc1l1tm1a(EUCOMM)Hmgu
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0002653 abnormal ependyma morphology "malformation or absence of the cellular membrane that lines the brain ventricles and the central canal of the spinal cord" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz,Tg(Nes-cre/Esr1*)4Ynj/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002948 abnormal neuronal specification "defects in the developmental patterning of neurons resulting in ectopic placement, decreased numbers or absence of mature neurons" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:87948]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 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: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

Allelic Composition: Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz,Tg(Nes-cre/Esr1*)4Ynj/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0003232 abnormal forebrain development "anomaly in the formation or patterning of the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [J:93081, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Numbtm1.1Ynj/Numbtm1.1Ynj
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0004073 caudal body truncation "caudal part of body truncated with anterior portion relatively normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0004180 failure of initiation of embryo turning "failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0004188 delayed embryo turning "completion of axial rotation occurs later than in controls but is eventually completed" [smb:Susan M Bello, Mouse Genome Informatics Curator ""]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0004255 abnormal spongiotrophoblast layer morphology "anomaly in the structure of the outer structural layer of the rodent placenta" [PMID:11433360]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pde4dtm2Mct/Pde4dtm2Mct
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0004275 abnormal postnatal subventricular zone morphology "any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:12637172]
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Allelic Composition: Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz,Tg(Nes-cre/Esr1*)4Ynj/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004279 abnormal rostral migratory stream morphology "any structural anomaly of the transient structure formed by neurons migrating from the subventricular zone into the olfactory bulbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz,Tg(Nes-cre/Esr1*)4Ynj/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004981 decreased neuronal precursor cell number "reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pde4dtm2Mct/Pde4dtm2Mct
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005179 decreased total circulating cholesterol level "less 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: Npc1l1tm1a(EUCOMM)Hmgu/Npc1l1tm1a(EUCOMM)Hmgu
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0006097 abnormal cerebellar lobule formation "anomaly in the formation of the lobes of the cerebellum" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:65410]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0006108 abnormal hindbrain development "anomaly in the formation or pattering of the caudal region of the brain" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93573]
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Allelic Composition: Tc/T+
Genetic Background: Not Specified

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz,Tg(Nes-cre/Esr1*)4Ynj/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 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: Tc/T+
Genetic Background: Not Specified

 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: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

Allelic Composition: Numbtm1.1Ynj/Numbtm1.1Ynj
Genetic Background: involves: 129X1/SvJ * FVB/N

 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: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

Allelic Composition: Numbtm1Zili/Numbtm1Zili,Tg(En2-cre)3Alj/?
Genetic Background: involves: 129/Sv * C57BL/6

 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: Pde4dtm2Mct/Pde4dtm2Mct
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

Allelic Composition: Numbtm1.1Ynj/Numbtm1.1Ynj
Genetic Background: involves: 129X1/SvJ * FVB/N

 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: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 MP:0011523 thin placenta labyrinth "decrease in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith]
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Allelic Composition: Numbtm1.1Zili/Numbtm1.1Zili
Genetic Background: involves: 129/Sv * FVB/N

 MP:0011724 ectopic cortical neuron "appearance of a cerebral cortical neuron or group of cerebral cortical neurons in a region where it is not normally found" [MGI:csmith]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

 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: Pde4dtm2Mct/Pde4dtm2Mct
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0013241 embryo tissue necrosis "morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage" [MGI:csmith]
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Allelic Composition: Numbtm1.1Ynj/Numbtm1.1Ynj
Genetic Background: involves: 129X1/SvJ * FVB/N

 MP:0020527 small thalamus "decreased size of the thalamus" [MGI:smb]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Numbtm1Ynj/Numbtm1Ynj,Numbltm1Wmz/Numbltm1Wmz
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * CD-1

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002957 Ap2a2 / P17427 / Mus musculus adaptor-related protein complex 2, alpha 2 subunit (Ap2a2), transcript variant 1, mRNA. / O94973* / adaptor related protein complex 2 alpha 2 subunit*  / complex
 ENSMUSG00000025407 Gli1 / P47806 / Zinc finger protein GLI1 / P08151* / GLI family zinc finger 1*  / complex / reaction
 ENSMUSG00000027598 Itch / Q8C863 / E3 ubiquitin-protein ligase Itchy / Q96J02* / itchy E3 ubiquitin protein ligase*  / reaction / complex
 ENSMUSG00000022048 Dpysl2 / O08553 / Dihydropyrimidinase-related protein 2 / Q16555* / dihydropyrimidinase like 2*  / complex
 ENSMUSG00000026923 Notch1 / Q01705 / Neurogenic locus notch homolog protein 1 Notch 1 extracellular truncation Notch 1 intracellular domain / P46531*  / reaction / complex
 ENSMUSG00000025231 Sufu / Q9Z0P7 / SUFU negative regulator of hedgehog signaling / Q9UMX1*  / complex / reaction
 ENSMUSG00000060279 Ap2a1 / P17426 / AP-2 complex subunit alpha-1 / O95782* / adaptor related protein complex 2 alpha 1 subunit*  / complex






 

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