ENSMUSG00000054008


Mus musculus

Features
Gene ID: ENSMUSG00000054008
  
Biological name :Ndst1
  
Synonyms : Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 Heparan sulfate N-deacetylase 1 Heparan sulfate N-sulfotransferase 1 / Ndst1 / Q3UHN9
  
Possible biological names infered from orthology : N-deacetylase and N-sulfotransferase 1 / P52848
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: D3
Gene start: 60685978
Gene end: 60713389
  
Corresponding Affymetrix probe sets: 10459089 (MoGene1.0st)   1422044_at (Mouse Genome 430 2.0 Array)   1428367_at (Mouse Genome 430 2.0 Array)   1445505_at (Mouse Genome 430 2.0 Array)   1460436_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000126623
NCBI entrez gene - 15531     See in Manteia.
MGI - MGI:104719
RefSeq - XM_011246844
RefSeq - NM_008306
RefSeq - XM_006525667
RefSeq - XM_006525668
RefSeq - XM_006525669
RefSeq - XM_006525670
RefSeq - XM_006525671
RefSeq - XM_006525673
RefSeq Peptide - NP_001335030
RefSeq Peptide - NP_001335031
RefSeq Peptide - NP_001335032
RefSeq Peptide - NP_032332
RefSeq Peptide - NP_001335029
swissprot - Q3UHN9
Ensembl - ENSMUSG00000054008
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ndst1aENSDARG00000062397Danio rerio
 ndst1bENSDARG00000103606Danio rerio
 NDST1ENSGALG00000004581Gallus gallus
 NDST1ENSG00000070614Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ndst2 / P52850 / N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 / P52849* / AC022400.6* / N-deacetylase and N-sulfotransferase 2* / bifunctional heparan sulfate N-deacetylase/N-s...ENSMUSG0000003930871
Ndst4 / Q9EQW8 / Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 Heparan sulfate N-deacetylase 4 Heparan sulfate N-sulfotransferase 4 / Q9H3R1* / N-deacetylase and N-sulfotr...ENSMUSG0000002797170
Ndst3 / Q9EQH7 / N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 / O95803* / N-deacetylase and N-sulfotransferase 3*ENSMUSG0000002797769
Q9QZS6 / Hs3st3b1 / Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 / Q9Y662* / heparan sulfate-glucosamine 3-sulfotransferase 3B1*ENSMUSG0000007040712
Q8BKN6 / Hs3st3a1 / Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 / Q9Y662* / HS3ST3B1* / heparan sulfate-glucosamine 3-sulfotransferase 3B1*ENSMUSG0000004775912
Hs3st4 / heparan sulfate-glucosamine 3-sulfotransferase 4 / Q9Y661*ENSMUSG0000007859112
Hs3st2 / Q673U1 / Heparan sulfate glucosamine 3-O-sulfotransferase 2 / Q9Y278* / heparan sulfate-glucosamine 3-sulfotransferase 2*ENSMUSG0000004632110
Hs3st5 / Q8BSL4 / heparan sulfate (glucosamine) 3-O-sulfotransferase 5 / Q8IZT8* / heparan sulfate-glucosamine 3-sulfotransferase 5*ENSMUSG0000004449910
Hs3st6 / Q5GFD5 / Heparan sulfate glucosamine 3-O-sulfotransferase 6 / Q96QI5* / heparan sulfate-glucosamine 3-sulfotransferase 6*ENSMUSG0000003962810
Hs3st1 / O35310 / Heparan sulfate glucosamine 3-O-sulfotransferase 1 / O14792* / heparan sulfate-glucosamine 3-sulfotransferase 1*ENSMUSG000000510229


Protein motifs (from Interpro)
Interpro ID Name
 IPR000863  Sulfotransferase domain
 IPR021930  Heparan sulphate-N-deacetylase
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR037359  Heparan sulfate sulfotransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000271 polysaccharide biosynthetic process IMP
 biological_processGO:0003279 cardiac septum development IMP
 biological_processGO:0006476 protein deacetylation TAS
 biological_processGO:0006477 protein sulfation TAS
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0007585 respiratory gaseous exchange IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008543 fibroblast growth factor receptor signaling pathway IMP
 biological_processGO:0009887 animal organ morphogenesis IMP
 biological_processGO:0015012 heparan sulfate proteoglycan biosynthetic process ISO
 biological_processGO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IEA
 biological_processGO:0030203 glycosaminoglycan metabolic process IMP
 biological_processGO:0030210 heparin biosynthetic process IEA
 biological_processGO:0030900 forebrain development IMP
 biological_processGO:0030901 midbrain development IGI
 biological_processGO:0035904 aorta development IMP
 biological_processGO:0043410 positive regulation of MAPK cascade IMP
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IGI
 biological_processGO:0048702 embryonic neurocranium morphogenesis IMP
 biological_processGO:0048703 embryonic viscerocranium morphogenesis IMP
 biological_processGO:0060976 coronary vasculature development IMP
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008146 sulfotransferase activity IDA
 molecular_functionGO:0015016 [heparan sulfate]-glucosamine N-sulfotransferase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019213 deacetylase activity IDA
 molecular_functionGO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity IEA


Pathways (from Reactome)
Pathway description
HS-GAG biosynthesis


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: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0000060 delayed bone ossification "late onset of the formation of bone" [J:40203]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 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: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0000087 absent mandible "missing the lower bony framework of the mouth where the inferior teeth are held" [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: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0000259 abnormal vascular development "malformation or aberrant differentiation of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17509]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

Allelic Composition: Ndst1tm1Je/Ndst1tm1Je,Robo4tm1Kzh/Robo4+,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Ndst1tm1Je/Ndst1tm1Je,Robo4tm1Kzh/Robo4tm1Kzh,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0000276 right ventricle hypertrophy "increased size of the right ventricle" [J:33629]
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Allelic Composition: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0000519 hydronephrosis "dilation of the pelvis and calices of one or both kidneys" [J:56641]
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Allelic Composition: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0000761 thin diaphragm muscle "reduced thickness of the diaphragm muscle" [MGI:CLS, J:60159]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 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: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0000787 abnormal telencephalon morphology "any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [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: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0000830 abnormal diencephalon morphology "any malformation or absence of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0000897 abnormal midbrain "malformation or malfunction associated with the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions, including eye movement and coordination of auditory and visual reflexes" [J:23882, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0000952 abnormal CNS glia "anomalous structure, number or composition of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001179 thicker alveolar septa 
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Allelic Composition: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 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: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

Allelic Composition: Ndst1tm1.1Grob/Ndst1+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Ndst1tm1Grob/Ndst1tm1Grob,Tg(Pax6-cre,GFP)1Pgr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

 MP:0001347 absent lacrimal glands "missing the glands that secrete tears" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Ctnnb1tm1Mmt/Ctnnb1+,Ptentm1Hwu/Ptentm1Hwu,Tg(Upk2-cre)6Xrw/0
Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * FVB/N

Allelic Composition: Ndst1tm1Grob/Ndst1tm1Grob,Ndst2tm1Lkj/Ndst2tm1Lkj,Tg(Pax6-cre,GFP)1Pgr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Ndst1tm1Grob/Ndst1tm1Grob,Ndst2tm1Lkj/Ndst2tm1Lkj,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 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: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: RalaGt(DD1113)Wtsi/RalaGt(DD1113)Wtsi
Genetic Background: involves: 129P2/OlaHsd

 MP:0001876 decreased inflammatory response "less than expected response to injury, infection, or insult" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0001890 anencephaly "absence of the bones of the cranial vault and absent or rudimentary cerebral and cerebellar hemispheres, brainstem, and basal ganglia" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:31571]
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Allelic Composition: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 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: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nr1h4tm1.1Gonz/Nr1h4tm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Nr1h4tm1.1Gonz/Nr1h4tm1.1Gonz,Tg(Alb1-cre)1Dlr/0
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002199 abnormal brain commissure morphology "absent or defective structure in a bundle of nerve fibers connecting the two brain hemispheres" [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: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0002275 abnormal type II pneumocyte morphology "any structural anomaly of the epithelial cells lining the alveoli that produce surfactant " [Pathology , 2nd edition:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002279 abnormal diaphragm morphology "structural defect in the thin musculomebraneous barrier that separates the abdominal and thoracic cavities; these muscles often used for breathing control" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

Allelic Composition: Ndst1tm1Je/Ndst1tm1Je,Robo4tm1Kzh/Robo4+,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Ndst1tm1Je/Ndst1tm1Je,Robo4tm1Kzh/Robo4tm1Kzh,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 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: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0002659 pituitary gland hypoplasia "decreased size of pituitary gland due to decreased cell number" [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: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0003078 aphakia "absence of the crystalline lens of the eye" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

Allelic Composition: Ndst1tm1.1Grob/Ndst1+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003156 abnormal lymphocyte migration/homing "altered ability of blood lymphocytes to bind to high endothelial venules (HEV), tether and roll along the luminal aspects of HEV, and migrate into the lymph nodes" [acv:Alicia C. Valenzuela, Mouse Genome Informatics Curator, J:92231]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 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: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0003451 absent olfactory bulb "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 , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0003628 abnormal lymphocyte adhesion "anomaly in the number of or process by which lymphocytes adhere to the luminal aspects of high endothelial venules prior to transmigration out of the vessel" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95656]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 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: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0003743 abnormal facial morphology "anomalous structure or development of the face" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0003924 herniated diaphragm "protrusion of abdominal contents into the thoracic cavity through the diaphragm" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

Allelic Composition: Ndst1tm1Je/Ndst1tm1Je,Slit3tm1.1Dor/Slit3+,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Ndst1tm1Je/Ndst1tm1Je,Slit3tm1.1Dor/Slit3tm1.1Dor,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Ndst1tm1Je/Ndst1tm1Je,Robo4tm1Kzh/Robo4+,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Ndst1tm1Je/Ndst1tm1Je,Robo4tm1Kzh/Robo4tm1Kzh,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 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: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 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: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0004780 abnormal surfactant secretion "anomaly in the production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005039 hypoxia "reduced concentration of O2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0005170 cleft lip "defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0005274 abnormal viscerocranium morphology "anomalous structure or formation of the part of the skull that comprises the facial bones " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0005602 decreased angiogenesis "reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [RGD:Rat Genome Database submission]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0006290 proboscis "a long, cylindric protuberance of the face that, in cyclopia or ethmocephaly, represents the nose" [J:92058, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0008221 abnormal hippocampal commissure morphology "any structural anomaly of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0008225 abnormal anterior commissure morphology "any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0008797 facial cleft "a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0009880 microstomia "abnormally decreased size of the mouth" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0009898 maxillary shelf hypoplasia "underdevelopment, usually due to a deficiency in the number of cells, of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate" [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: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0009905 absent tongue "absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010080 abnormal hepatocyte physiology "any functional anomaly of the main structural specialized epithelial cells which normally organize into interconnected plates called lobules" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ndst1tm1Je/Ndst1tm1Je,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA

 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: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 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: Ndst1b2b2230Clo/Ndst1b2b2230Clo
Genetic Background: C57BL/6J-Ndst1b2b2230Clo

 MP:0010714 coloboma of the iris "congenital defect of the iris in which some part of the structure is absent" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 MP:0010890 decreased alveolar lamellar body number "reduced number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0010912 herniated liver "protrusion of any portion of the liver from its normal anatomical position" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0010940 abnormal maxillary prominence morphology 
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Allelic Composition: Ndst1tm1.1Grob/Ndst1+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 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: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

 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: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0011109 partial lethality throughout fetal growth and development "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0011643 abnormal tendon collagen fibril morphology "any structural anomaly of the connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity" [MGI:csmith]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0011708 decreased fibroblast cell migration "reduced frequency of or less rapid cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium" [MGI:csmith]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0012061 abnormal central tendon morphology "any structural anomaly of the three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers" [MGI:csmith]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0012201 decreased endothelial cell proliferation 
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0012252 abnormal septum transversum morphology "any structural anomaly of the thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions; the cranial part of the septum transversum gives rise to the central tendon of the diaphragm and is the origin of the myoblasts that invade the pleuroperitoneal folds resulting in the formation of the muscular diaphragm, and the caudal part of the septum transversum is invaded by the hepatic diverticulum which divides within it to form the liver and thus gives rise to the ventral mesentery of the foregut" [MGI:anna, VHOG:0000019]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0012261 increased hindbrain apoptosis "increase in the number of cells of the hindbrain undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0013331 abnormal lacrimal gland development "aberrant formation or incomplete differentiation of the paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film; each lacrimal gland develops through branching morphogenesis regulated by FGF signaling; at E12.5, the conjunctival epithelium at the temporal side of the mouse eyes invades the Fgf10-expressing mesenchyme to form the initial lacrimal gland bud; the bud elongates posteriorly until E15.5 when secondary branching begins to establish the complex tubuloalveolar structure; this eventually gives rise to the mature lacrimal gland composed of numerous ducts, acini and connective tissue" [MGI:Anna, PMID:22745308]
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Allelic Composition: Ndst1tm1Grob/Ndst1tm1Grob,Tg(Pax6-cre,GFP)1Pgr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

Allelic Composition: Ndst1tm1Grob/Ndst1tm1Grob,Ndst2tm1Lkj/Ndst2tm1Lkj,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0014155 absent olfactory epithelium "absence of the epithelial cells that line the interior of the nose" [MGI:csmith]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0020332 impaired leukocyte tethering or rolling "reduced ability or inability in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation" [GO:0050901, ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Ptger2tm2Bhk/Ptger2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv

 MP:0030190 small snout "decreased size of the anterior facial part of the face or muzzle containing the oral and nasal regions" [MGI:anna]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0030250 frontonasal prominence hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout" [MGI:anna]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0030313 abnormal face development "any anomaly in the process in which the anatomical structures of the face are generated and organized" [GO:0060325]
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Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Ndst3tm1.1Grob/Ndst3tm1.1Grob
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0030385 absent facial bone "failure to develop or absence of one or more facial bones" [MGI:anna]
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Allelic Composition: Chd7Whi/Chd7+
Genetic Background: C3HeB/FeJ-Chd7Whi

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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