Manteia - Molecule gene

ENSMUSG00000038146

Mus musculus

Features

Gene ID:	ENSMUSG00000038146

Biological name :	Notch3

Synonyms :	Neurogenic locus notch homolog protein 3 Notch 3 extracellular truncation Notch 3 intracellular domain / Notch3 / Q61982

Possible biological names infered from orthology :	Q9UM47

Species:	Mus musculus

Chr. number:	17
Strand:	-1
Band:	B1
Gene start:	32120820
Gene end:	32166880

Corresponding Affymetrix probe sets:	10449775 (MoGene1.0st) 1421964_at (Mouse Genome 430 2.0 Array) 1421965_s_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000085016 NCBI entrez gene - 18131 See in Manteia. MGI - MGI:99460 RefSeq - NM_008716 RefSeq - XM_017317293 RefSeq Peptide - NP_032742 swissprot - Q61982 Ensembl - ENSMUSG00000038146

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
notch3	ENSDARG00000052139	Danio rerio
NOTCH3	ENSG00000074181	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Notch2 / Q04721*	ENSMUSG00000027878	52
Notch1 / Q01705 / Neurogenic locus notch homolog protein 1 Notch 1 extracellular truncation Notch 1 intracellular domain / P46531*	ENSMUSG00000026923	52
Notch4 / Q99466*	ENSMUSG00000015468	35
Jag2 / Q9QYE5 / Protein jagged-2 / Q9Y219* / jagged 2*	ENSMUSG00000002799	16
Sned1 / sushi, nidogen and EGF like domains 1 / Q8TER0*	ENSMUSG00000047793	16
Jag1 / Q9QXX0 / Protein jagged-1 / P78504* / jagged 1*	ENSMUSG00000027276	15
Dll4 / Q9JI71 / Delta-like protein 4 / Q9NR61* / delta like canonical Notch ligand 4*	ENSMUSG00000027314	8
Dll1 / Q61483 / Delta-like protein 1 Dll1-soluble form Dll1-derived cell-associated form Dll1-intracellular form / O00548* / delta like canonical Notch ligand 1*	ENSMUSG00000014773	8

Protein motifs (from Interpro)

Interpro ID	Name
IPR000152	EGF-type aspartate/asparagine hydroxylation site
IPR000742	EGF-like domain
IPR000800	Notch domain
IPR001881	EGF-like calcium-binding domain
IPR002110	Ankyrin repeat
IPR008297	Notch
IPR009030	Growth factor receptor cysteine-rich domain superfamily
IPR010660	Notch, NOD domain
IPR011656	Notch, NODP domain
IPR013032	EGF-like, conserved site
IPR018097	EGF-like calcium-binding, conserved site
IPR020683	Ankyrin repeat-containing domain
IPR022331	Neurogenic locus Notch 3
IPR024600	Domain of unknown function DUF3454, notch
IPR035993	Notch-like domain superfamily
IPR036770	Ankyrin repeat-containing domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
biological_process	GO:0006351	transcription, DNA-templated	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
biological_process	GO:0007219	Notch signaling pathway	IDA
biological_process	GO:0007275	multicellular organism development	IEA
biological_process	GO:0030154	cell differentiation	IEA
biological_process	GO:0030900	forebrain development	IGI
biological_process	GO:0045596	negative regulation of cell differentiation	IMP
biological_process	GO:0045665	negative regulation of neuron differentiation	IMP
biological_process	GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
biological_process	GO:0048661	positive regulation of smooth muscle cell proliferation	IDA
biological_process	GO:0048663	neuron fate commitment	IGI
biological_process	GO:0048844	artery morphogenesis	IMP
biological_process	GO:0050793	regulation of developmental process	IEA
biological_process	GO:0072104	glomerular capillary formation	IEP
cellular_component	GO:0005634	nucleus	IEA
cellular_component	GO:0005654	nucleoplasm	IEA
cellular_component	GO:0005829	cytosol	IEA
cellular_component	GO:0005886	plasma membrane	TAS
cellular_component	GO:0005887	integral component of plasma membrane	IC
cellular_component	GO:0015629	actin cytoskeleton	IEA
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0016021	integral component of membrane	IEA
cellular_component	GO:0043235	receptor complex	IEA
molecular_function	GO:0005509	calcium ion binding	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0019899	enzyme binding	IPI
molecular_function	GO:0042802	identical protein binding	IEA
molecular_function	GO:0045296	cadherin binding	IEA

Pathways (from Reactome)

Pathway description

Pre-NOTCH Processing in Golgi

Notch-HLH transcription pathway

NOTCH3 Activation and Transmission of Signal to the Nucleus

Noncanonical activation of NOTCH3

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000160	kyphosis	"forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0000186	decreased circulating HDL cholesterol level	"lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Lta^{tm1.1(KOMP)Vlcg}/Lta^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Lta^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000240	extramedullary hematopoiesis	"formation and development of blood cells outside the bone marrow, e.g., in the spleen, liver, or lymph nodes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Ncstn^tm1.1Akli/Ncstn^tm1.1Akli,Tg(Vav1-cre)1Graf/0 Genetic Background: involves: 129 * C57BL/6 * SJL Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko,Notch2^tm1Rko/Notch2^tm1Rko,Notch3^{Gt(PST033)Byg}/Notch3⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * CBA
MP:0000262	poor arterial differentiation	"failure of or inadequate acquisition of the characteristics and/or functions of the arteries" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Npy4r^tm1.1Hhz/Npy4r^tm1.1Hhz Genetic Background: involves: 129X1/SvJ * BALB/cJ * C57BL/6
MP:0000274	enlarged heart	"increase over normal size of the heart" [J:29971]	Show Allelic Composition: Lta^{tm1.1(KOMP)Vlcg}/Lta^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Lta^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000377	abnormal hair follicle	"malformed invagination of the epidermis from which the hair shaft develops" [J:65031]	Show Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko,Notch2^tm1Rko/Notch2^tm1Rko,Tg(Msx2-cre)5Rem/0 Genetic Background: Not Specified
MP:0000648	absent sebaceous gland	"missing the holocrine glands of the dermis that secrete sebum into the hair follicles" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]	Show Allelic Composition: Cebpa^tm1Gjd/Cebpa^tm1Gjd Genetic Background: B6.129S7-Cebpa^tm1Gjd
MP:0000689	abnormal spleen morphology	"atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]	Show Allelic Composition: Ncstn^tm1.1Akli/Ncstn^tm1.1Akli,Tg(Vav1-cre)1Graf/0 Genetic Background: involves: 129 * C57BL/6 * SJL Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko,Notch2^tm1Rko/Notch2^tm1Rko,Notch3^{Gt(PST033)Byg}/Notch3⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * CBA
MP:0000691	enlarged spleen	"increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Ncstn^tm1.1Akli/Ncstn^tm1.1Akli,Tg(Vav1-cre)1Graf/0 Genetic Background: involves: 129 * C57BL/6 * SJL Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko,Notch2^tm1Rko/Notch2^tm1Rko,Notch3^{Gt(PST033)Byg}/Notch3⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * CBA
MP:0000706	small thymus	"reduced size of the thymus" [J:36561, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:31167]	Show Allelic Composition: Lhx1^tm2.1Bhr/Lhx1^tm1Tmj,Tg(Rarb-cre)1Bhr/0 Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL
MP:0000715	decreased thymocyte number	"fewer than expected number of precursors to T cells; these cells are lymphoid cells found in the thymus " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Lhx1^tm2.1Bhr/Lhx1^tm1Tmj,Tg(Rarb-cre)1Bhr/0 Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL
MP:0000751	myopathy	"any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0000754	partial paralysis	"partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Ano1^tm1.1Jwo/Ano1^tm1.1Jwo,Avil^tm2(cre)Fawa/Avil⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL Allelic Composition: Notch3^tm1.1Dwr/Notch3⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0001176	abnormal lung development	"malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]	Show Allelic Composition: Lfng^tm1.2Egan/Lfng^tm1.2Egan Genetic Background: FVB.129-Lfng^tm1.2Egan
MP:0001192	scaly skin	"skin covered with shedding scales or flakes" [J:65146]	Show Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko,Notch2^tm1Rko/Notch2^tm1Rko,Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg},Tg(Msx2-cre)5Rem/0 Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ
MP:0001219	thickened epidermis	"increase in the width of the epidermal cell layer in the skin" [J:65146]	Show Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko,Notch2^tm1Rko/Notch2^tm1Rko,Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg},Tg(Msx2-cre)5Rem/0 Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ
MP:0001393	ataxia	"inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]	Show Allelic Composition: Ano1^tm1.1Jwo/Ano1^tm1.1Jwo,Avil^tm2(cre)Fawa/Avil⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL Allelic Composition: Notch3^tm1.1Dwr/Notch3⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0001417	decreased exploration in new environment	"less amount of time spent investigating a new location" [J:79870]	Show Allelic Composition: Ano1^tm1.1Jwo/Ano1^tm1.1Jwo,Avil^tm2(cre)Fawa/Avil⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL Allelic Composition: Notch3^tm1.1Dwr/Notch3⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0001672	abnormal embryogenesis/ development	"anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0001891	hydroencephaly	"excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0001925	male infertility	"inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0002026	leukemia	"progressive proliferation of abnormal leukocytes in hematopoietic tissues, organs and blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18542]	Show Allelic Composition: Ncstn^tm1.1Akli/Ncstn^tm1.1Akli,Tg(Vav1-cre)1Graf/0 Genetic Background: involves: 129 * C57BL/6 * SJL
MP:0002066	abnormal motor capabilities/coordination/movement	"altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Ano1^tm1.1Jwo/Ano1^tm1.1Jwo,Avil^tm2(cre)Fawa/Avil⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL Allelic Composition: Notch3^tm1.1Dwr/Notch3⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0002083	premature death	"death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0002084	abnormal developmental patterning	"abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6J
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]	Show Allelic Composition: Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0002123	abnormal hematopoiesis	"abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Ncstn^tm1.1Akli/Ncstn^tm1.1Akli,Tg(Vav1-cre)1Graf/0 Genetic Background: involves: 129 * C57BL/6 * SJL
MP:0002128	abnormal blood circulation	"failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Npy4r^tm1.1Hhz/Npy4r^tm1.1Hhz Genetic Background: involves: 129X1/SvJ * BALB/cJ * C57BL/6
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]	Show Allelic Composition: Ano1^tm1.1Jwo/Ano1^tm1.1Jwo,Avil^tm2(cre)Fawa/Avil⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL Allelic Composition: Notch3^tm1.1Dwr/Notch3⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0002169	no phenotype detected	"normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Mitf^Rorp/Mitf⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN Allelic Composition: Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6J Allelic Composition: Notch3^tm1Ul/Notch3^tm1Ul Genetic Background: Not Specified Allelic Composition: Notch3^tm1Ul/Notch3⁺ Genetic Background: Not Specified Allelic Composition: Notch3^{tm1.1(cre/ERT2)Sat}/Notch3⁺ Genetic Background: C57BL/6-Notch3^{tm1.1(cre/ERT2)Sat}
MP:0002183	gliosis	"increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Notch3^tm1.1Dwr/Notch3^tm1.1Dwr Genetic Background: involves: 129S/SvEv * Swiss Allelic Composition: Notch3^tm1.1Dwr/Notch3⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0002191	abnormal artery morphology	"malformation of the blood vessels that carry blood away from the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Npy4r^tm1.1Hhz/Npy4r^tm1.1Hhz Genetic Background: involves: 129X1/SvJ * BALB/cJ * C57BL/6 Allelic Composition: Notch3^tm1.1Dwr/Notch3^tm1.1Dwr Genetic Background: involves: 129S/SvEv * Swiss Allelic Composition: Notch3^tm1.1Dwr/Notch3⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0002644	decreased circulating triglyceride level	"lower than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Lta^{tm1.1(KOMP)Vlcg}/Lta^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Lta^{tm1.1(KOMP)Vlcg}/Ucd
MP:0002792	abnormal retinal vascularization	"malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]	Show Allelic Composition: Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6
MP:0002942	decreased circulating alanine transaminase level	"decreased concentration in the blood of this enzyme, which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Lta^{tm1.1(KOMP)Vlcg}/Lta^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Lta^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003044	impaired basement membrane formation	"defect in the organization and/or placement of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Notch1^tm1Grid/Notch1⁺,Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6
MP:0003068	enlarged kidney	"larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]	Show Allelic Composition: Lta^{tm1.1(KOMP)Vlcg}/Lta^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Lta^{tm1.1(KOMP)Vlcg}/Ucd
MP:0003076	increased susceptibility to ischemic brain injury	"increased lesion size following loss of circulation in a region of the brain; may be induced or spontaneous" [J:90111, smb:Susan M. Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Rela^tm2.1Gho/Rela^tm2.1Gho Genetic Background: involves: 129S6/SvEvTac * C57BL/6 Allelic Composition: Gt(ROSA)26Sor^{tm3(NOTCH3R1031C)Sat}/Gt(ROSA)26Sor⁺,Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg},Tg(Tagln-cre)1Her/0 Genetic Background:* involves: 129 * C57BL/6 * SJL Allelic Composition: Gt(ROSA)26Sor^{tm2(NOTCH3C455R)Sat}/Gt(ROSA)26Sor⁺,Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg},Tg(Tagln-cre)1Her/0 Genetic Background:* involves: 129 * C57BL/6 * SJL
MP:0003554	phimosis	"narrow opening of the foreskin resulting in the inability to retract the foreskin over the glans penis " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0003719	abnormal pericyte morphology	"malformation in the connective tissue cells that occurs around capillaries or other small blood vessels " [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6 Allelic Composition: Notch1^tm1Grid/Notch1⁺,Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6
MP:0003984	embryonic growth retardation	"slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0004125	abnormal venule morphology	"any structural anomaly in the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Notch1^tm1Grid/Notch1⁺,Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6
MP:0005048	thrombosis	"formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements " [Pathology:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Notch3^tm1.1Dwr/Notch3^tm1.1Dwr Genetic Background: involves: 129S/SvEv * Swiss Allelic Composition: Notch3^tm1.1Dwr/Notch3⁺ Genetic Background: involves: 129S/SvEv * Swiss
MP:0005150	cachexia	"general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: 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]	Show Allelic Composition: Lta^{tm1.1(KOMP)Vlcg}/Lta^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Lta^{tm1.1(KOMP)Vlcg}/Ucd
MP:0005292	improved glucose tolerance	"better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Lta^{tm1.1(KOMP)Vlcg}/Lta^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Lta^{tm1.1(KOMP)Vlcg}/Ucd
MP:0005532	abnormal vascular resistance	"deviation from the normal force opposing the flow of blood through a vascular bed; it is equal to the difference in blood pressure across the vascular bed divided by the cardiac output" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Npy4r^tm1.1Hhz/Npy4r^tm1.1Hhz Genetic Background: involves: 129X1/SvJ * BALB/cJ * C57BL/6
MP:0005560	decreased circulating glucose level	"less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Lta^{tm1.1(KOMP)Vlcg}/Lta^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Lta^{tm1.1(KOMP)Vlcg}/Ucd
MP:0005592	abnormal vascular smooth muscle morphology	"structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Npy4r^tm1.1Hhz/Npy4r^tm1.1Hhz Genetic Background: involves: 129X1/SvJ * BALB/cJ * C57BL/6 Allelic Composition: Gt(ROSA)26Sor^{tm2(NOTCH3C455R)Sat}/Gt(ROSA)26Sor⁺,Notch3^{Gt(PST033)Byg}/Notch3^{Gt(PST033)Byg},Tg(Tagln-cre)1Her/0 Genetic Background:* involves: 129 * C57BL/6 * SJL Allelic Composition: Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6 Allelic Composition: Notch1^tm1Grid/Notch1⁺,Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6
MP:0006027	impaired alveologenesis	"a block or reduction in the generation of alveoli" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:85546]	Show Allelic Composition: Lfng^tm1.2Egan/Lfng^tm1.2Egan Genetic Background: FVB.129-Lfng^tm1.2Egan
MP:0006058	decreased cerebral infarction size	"decreased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply " [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Rela^tm2.1Gho/Rela^tm2.1Gho Genetic Background: involves: 129S6/SvEvTac * C57BL/6
MP:0006060	increased cerebral infarction size	"increased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Rela^tm2.1Gho/Rela^tm2.1Gho Genetic Background: involves: 129S6/SvEvTac * C57BL/6
MP:0006093	arteriovenous malformation	"fusion of an artery and vein without an intervening capillary bed" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93125]	Show Allelic Composition: Notch1^tm1Grid/Notch1⁺,Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6
MP:0006325	impaired hearing	"reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0008476	increased spleen red pulp amount	"increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ncstn^tm1.1Akli/Ncstn^tm1.1Akli,Tg(Vav1-cre)1Graf/0 Genetic Background: involves: 129 * C57BL/6 * SJL Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko,Notch2^tm1Rko/Notch2^tm1Rko,Notch3^{Gt(PST033)Byg}/Notch3⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * CBA
MP:0009142	decreased prepulse inhibition	"decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lta^{tm1.1(KOMP)Vlcg}/Lta^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Lta^{tm1.1(KOMP)Vlcg}/Ucd
MP:0009417	skeletal muscle atrophy	"a wasting of skeletal muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0009661	abnormal pregnancy	"any anomaly in the process of maintaining a developing embryo or fetus within the female body from conception to birth" [ISBN:0198542771 "Rugh, Roberts, The Mouse: Its Reproduction and Development", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0009763	increased sensitivity to induced morbidity/mortality	"decrease in the amount of an external agent required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rela^tm2.1Gho/Rela^tm2.1Gho Genetic Background: involves: 129S6/SvEvTac * C57BL/6
MP:0010097	abnormal retinal blood vessel morphology	"any structural anomaly of the blood vessels supplying the retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6 Allelic Composition: Notch1^tm1Grid/Notch1⁺,Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6
MP:0010174	decreased mammary gland epithelium proliferation	"decrease in the expansion rate of the cells of the mammary gland epithelium by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fkrp^tm1Scbr/Fkrp^tm1Scbr,Sox1^tm1(cre)Take/Sox1⁺,Tg(CAG-LARGE)126Fmu/0 Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj
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]	Show Allelic Composition: Lfng^tm1.2Egan/Lfng^tm1.2Egan Genetic Background: FVB.129-Lfng^tm1.2Egan
MP:0011181	increased hematopoietic cell number	"greater than expected number of cells of the hematopoietic lineage" [MGI:csmith]	Show Allelic Composition: Ncstn^tm1.1Akli/Ncstn^tm1.1Akli,Tg(Vav1-cre)1Graf/0 Genetic Background: involves: 129 * C57BL/6 * SJL Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko,Notch2^tm1Rko/Notch2^tm1Rko,Notch3^{Gt(PST033)Byg}/Notch3⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * CBA
MP:0011967	increased or absent threshold for auditory brainstem response	"increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(HBEGF)Awai}/Gt(ROSA)26Sor^{tm1(HBEGF)Awai},Tg(Gdf9-icre)5092Coo/0 Genetic Background: involves: C57BL/6
MP:0013925	abnormal vascular plexus formation		Show Allelic Composition: Notch1^tm1Grid/Notch1⁺,Notch3^tm1Grid/Notch3^tm1Grid Genetic Background: involves: 129S1/Sv * C57BL/6

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000020122	Egfr / Q01279 / Epidermal growth factor receptor / P00533*	/ reaction / complex
ENSMUSG00000014773	Dll1 / Q61483 / Delta-like protein 1 Dll1-soluble form Dll1-derived cell-associated form Dll1-intracellular form / O00548* / delta like canonical Notch ligand 1*	/ complex / reaction
ENSMUSG00000010609	Psen2 / presenilin 2 / P49810*	/ reaction
ENSMUSG00000028017	Egf / P01132 / Mus musculus epidermal growth factor (Egf), transcript variant 3, mRNA. / P01133* / epidermal growth factor*	/ reaction / complex
ENSMUSG00000019969	Psen1 / P49769 / presenilin 1 / P49768*	/ reaction
ENSMUSG00000039191	Rbpj / P31266 / Recombining binding protein suppressor of hairless / Q06330* / recombination signal binding protein for immunoglobulin kappa J region*	/ complex
ENSMUSG00000031925	Maml2 / mastermind-like protein 2 isoform 1 / Q8IZL2* / mastermind like transcriptional coactivator 2*	/ complex
ENSMUSG00000050567	Maml1 / Q6T264 / Mastermind-like protein 1 / Q92585* / mastermind like transcriptional coactivator 1*	/ complex
ENSMUSG00000054693	Adam10 / O35598 / Disintegrin and metalloproteinase domain-containing protein 10 / O14672* / ADAM metallopeptidase domain 10*	/ reaction
ENSMUSG00000028639	Ybx1 / P62960 / Y box protein 1 / P67809* / Y-box binding protein 1*	/ reaction / complex
ENSMUSG00000002799	Jag2 / Q9QYE5 / Protein jagged-2 / Q9Y219* / jagged 2*	/ complex / reaction
ENSMUSG00000031930	Wwp2 / Q9DBH0 / WW domain containing E3 ubiquitin protein ligase 2 / O00308*	/ complex / reaction
ENSMUSG00000027314	Dll4 / Q9JI71 / Delta-like protein 4 / Q9NR61* / delta like canonical Notch ligand 4*	/ complex / reaction
ENSMUSG00000038146	Notch3 / Q61982 / Neurogenic locus notch homolog protein 3 Notch 3 extracellular truncation Notch 3 intracellular domain / Q9UM47*	/ complex
ENSMUSG00000027276	Jag1 / Q9QXX0 / Protein jagged-1 / P78504* / jagged 1*	/ reaction / complex
ENSMUSG00000061143	Maml3 / mastermind like transcriptional coactivator 3 / Q96JK9*	/ complex

0 s.

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