Manteia - Molecule gene

ENSMUSG00000001870

Mus musculus

Features

Gene ID:	ENSMUSG00000001870

Biological name :	Ltbp1

Synonyms :	Latent-transforming growth factor beta-binding protein 1 / Ltbp1 / Q8CG19

Possible biological names infered from orthology :	Q14766

Species:	Mus musculus

Chr. number:	17
Strand:	1
Band:	E2
Gene start:	75005568
Gene end:	75392512

Corresponding Affymetrix probe sets:	10446928 (MoGene1.0st) 1419786_at (Mouse Genome 430 2.0 Array) 1446232_at (Mouse Genome 430 2.0 Array) 1447547_at (Mouse Genome 430 2.0 Array) 1448870_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000001927 Ensembl peptide - ENSMUSP00000108133 Ensembl peptide - ENSMUSP00000108135 Ensembl peptide - ENSMUSP00000116890 NCBI entrez gene - 268977 See in Manteia. MGI - MGI:109151 RefSeq - XM_017317495 RefSeq - NM_019919 RefSeq - NM_206958 RefSeq - XM_006524355 RefSeq - XM_006524356 RefSeq - XM_017317492 RefSeq - XM_017317493 RefSeq - XM_017317494 RefSeq - XM_006524348 RefSeq - XM_006524349 RefSeq - XM_006524350 RefSeq - XM_006524351 RefSeq - XM_006524353 RefSeq - XM_006524354 RefSeq Peptide - NP_001318166 RefSeq Peptide - NP_064303 RefSeq Peptide - NP_996841 swissprot - Q8CG19 swissprot - B1B1E2 Ensembl - ENSMUSG00000001870

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
ltbp1	ENSDARG00000056922	Danio rerio
LTBP1	ENSGALG00000010448	Gallus gallus
LTBP1	ENSG00000049323	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Ltbp2 / latent transforming growth factor beta binding protein 2 / Q14767*	ENSMUSG00000002020	39
Ltbp4 / Q8K4G1 / Latent-transforming growth factor beta-binding protein 4 / Q8N2S1*	ENSMUSG00000040488	34
Ltbp3 / latent transforming growth factor beta binding protein 3 / Q9NS15*	ENSMUSG00000024940	31
Fbn2 / Q61555 / Fibrillin-2 Fibrillin-2 C-terminal peptide / P35556* / fibrillin 2*	ENSMUSG00000024598	28
Fbn1 / Q61554 / Fibrillin-1 Asprosin / P35555* / fibrillin 1*	ENSMUSG00000027204	26
Fbln2 / P37889 / Fibulin-2 / P98095*	ENSMUSG00000064080	16
Fbln1 / Q08879 / Mus musculus fibulin 1 (Fbln1), transcript variant 2, mRNA. / P23142* / fibulin 1*	ENSMUSG00000006369	11
Efemp1 / Q8BPB5 / EGF-containing fibulin-like extracellular matrix protein 1 / Q12805* / EGF containing fibulin extracellular matrix protein 1*	ENSMUSG00000020467	6
Fbln5 / Q9WVH9 / Fibulin-5 / Q9UBX5*	ENSMUSG00000021186	6
Efemp2 / Q9WVJ9 / EGF-containing fibulin-like extracellular matrix protein 2 / O95967* / EGF containing fibulin extracellular matrix protein 2*	ENSMUSG00000024909	6

Protein motifs (from Interpro)

Interpro ID	Name
IPR000152	EGF-type aspartate/asparagine hydroxylation site
IPR000742	EGF-like domain
IPR001881	EGF-like calcium-binding domain
IPR009030	Growth factor receptor cysteine-rich domain superfamily
IPR013032	EGF-like, conserved site
IPR017878	TB domain
IPR018097	EGF-like calcium-binding, conserved site
IPR026823	Complement Clr-like EGF domain
IPR036773	TGF-beta binding (TB) domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0003281	ventricular septum development	IMP
biological_process	GO:0007179	transforming growth factor beta receptor signaling pathway	TAS
biological_process	GO:0035904	aorta development	IMP
biological_process	GO:0060976	coronary vasculature development	IMP
cellular_component	GO:0001527	microfibril	ISO
cellular_component	GO:0005576	extracellular region	ISO
cellular_component	GO:0005615	extracellular space	IDA
cellular_component	GO:0031012	extracellular matrix	ISO
cellular_component	GO:0032991	protein-containing complex	IEA
molecular_function	GO:0005509	calcium ion binding	IEA
molecular_function	GO:0019838	growth factor binding	IEA
molecular_function	GO:0050431	transforming growth factor beta binding	ISO
molecular_function	GO:0050436	microfibril binding	ISO

Pathways (from Reactome)

Pathway description

Molecules associated with elastic fibres

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Post-translational protein phosphorylation

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000088	short mandible	"reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Apaf1^tm1Mak/Apaf1^tm1Mak Genetic Background: involves: 129P2/OlaHsd * CD-1
MP:0000097	short maxilla	"reduced length of the upper jaw bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53370]	Show Allelic Composition: Apaf1^tm1Mak/Apaf1^tm1Mak Genetic Background: involves: 129P2/OlaHsd * CD-1
MP:0000183	decreased circulating LDL cholesterol level	"less than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
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: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000218	increased WBC count	"greater than normal WBC numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Kptn^{tm1a(EUCOMM)Wtsi}/Kptn^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Kptn^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000284	double outlet right ventricle	"both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]	Show Allelic Composition: Ackr4^tm1Ccbl/Ackr4⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000438	abnormal skull morphology	"anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Apaf1^tm1Mak/Apaf1^tm1Mak Genetic Background: involves: 129P2/OlaHsd * CD-1 Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000443	abnormal snout morphology	"anomalous structure or development of the anterior facial part of the muzzle" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000445	short snout	"reduced length of the anterior facial part of the muzzle" [J:53370]	Show Allelic Composition: Apaf1^tm1Mak/Apaf1^tm1Mak Genetic Background: involves: 129P2/OlaHsd * CD-1
MP:0000454	abnormal jaw morphology	"malformation of the bony framework of the mouth where the teeth are held" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Apaf1^tm1Mak/Apaf1^tm1Mak Genetic Background: involves: 129P2/OlaHsd * CD-1
MP:0000552	abnormal radius morphology	"malformation of the short bone of the lateral forearm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001258	decreased body length	"decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
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]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
MP:0002100	abnormal tooth morphology	"atypical size, shape or hard tissue structure of the teeth " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
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]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6 Allelic Composition: Ltbp1^b2b1000Clo/Ltbp1^b2b1000Clo Genetic Background: C57BL/6J-Ltbp1^b2b1000Clo
MP:0002705	dilated renal tubules	"enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Ltbp1^b2b1000Clo/Ltbp1^b2b1000Clo Genetic Background: C57BL/6J-Ltbp1^b2b1000Clo
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: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0003333	liver fibrosis	"invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Apaf1^tm1Mak/Apaf1^tm1Mak Genetic Background: involves: 129P2/OlaHsd * CD-1
MP:0004111	abnormal coronary artery morphology	"anomaly of any of the arteries that branch from the aorta to supply blood to the heart" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6
MP:0004151	hypoferremia	"less than the normal concentration of this metallic element in the blood" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
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]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6 Allelic Composition: Ltbp1^b2b1000Clo/Ltbp1^b2b1000Clo Genetic Background: C57BL/6J-Ltbp1^b2b1000Clo
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]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6 Allelic Composition: Ltbp1^b2b1000Clo/Ltbp1^b2b1000Clo Genetic Background: C57BL/6J-Ltbp1^b2b1000Clo
MP:0004447	small basioccipital bone	"reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Apaf1^tm1Mak/Apaf1^tm1Mak Genetic Background: involves: 129P2/OlaHsd * CD-1
MP:0004462	small basisphenoid bone	"reduced size of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Apaf1^tm1Mak/Apaf1^tm1Mak Genetic Background: involves: 129P2/OlaHsd * CD-1
MP:0005108	abnormal ulna morphology	"malformation of the medial and larger of the two bones of the forearm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83132]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
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: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005358	abnormal incisor morphology	"structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005419	hypoalbuminemia	"blood albumin concentration below the normal range" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005561	increased mean corpuscular hemoglobin	"greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005564	increased hemoglobin content	"increase in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005565	increased blood urea nitrogen level	"high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005567	decreased circulating total protein level	"less than the average total concentration of these macromolecules in the blood " [RGD:Rat Genome Database submission]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
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: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
MP:0005632	decreased circulating aspartate transaminase level	"less than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0006354	abnormal fourth branchial arch artery morphology	"any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
MP:0008528	polycystic kidney	"the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ltbp1^b2b1000Clo/Ltbp1^b2b1000Clo Genetic Background: C57BL/6J-Ltbp1^b2b1000Clo
MP:0010025	decreased total body fat amount	"less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010124	decreased bone mineral content	"reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ltbp1^{tm1a(EUCOMM)Wtsi}/Ltbp1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Ltbp1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010406	absent atrial septum	"absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
MP:0010418	perimembraneous ventricular septal defect	"abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
MP:0010454	abnormal truncus arteriosis septation	"anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
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]	Show Allelic Composition: Ltbp1^b2b1000Clo/Ltbp1^b2b1000Clo Genetic Background: C57BL/6J-Ltbp1^b2b1000Clo
MP:0010472	abnormal ascending aorta and coronary artery attachment	"any anomaly of the connection site of any or all of the coronary arteries to the ascending aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
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: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
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]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
MP:0011682	renal glomerulus cysts	"abnormal membranous sacs in any portion of the renal glomerulus" [MGI:csmith]	Show Allelic Composition: Ltbp1^b2b1000Clo/Ltbp1^b2b1000Clo Genetic Background: C57BL/6J-Ltbp1^b2b1000Clo
MP:0012747	abnormal cardiac neural crest cell morphology	"any structural anomaly of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia" [MGI:anna]	Show Allelic Composition: Numb^tm1Ynj/Numb^tm1Ynj,Numbl^tm1Wmz/Numbl^tm1Wmz,Tg(Nes-cre/Esr1)4Ynj/0 Genetic Background:* involves: 129X1/SvJ * C57BL/6 Allelic Composition: Ltbp1^tm2Veto/Ltbp1^tm2Veto Genetic Background: involves: 129 * C57BL/6
MP:0030136	abnormal lower incisor morphology	"any structural anomaly of the lower set of long teeth that are the most anterior and prominent in the jaw" [MGI:anna]	Show Allelic Composition: Apaf1^tm1Mak/Apaf1^tm1Mak Genetic Background: involves: 129P2/OlaHsd * CD-1

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000021253	Tgfb3 / transforming growth factor, beta 3 / P10600*	/ complex / reaction
ENSMUSG00000002603	Tgfb1 / P04202 / transforming growth factor, beta 1 / P01137*	/ complex / reaction
ENSMUSG00000039239	Tgfb2 / P27090 / Transforming growth factor beta-2 Latency-associated peptide / P61812* / transforming growth factor beta 2*	/ complex / reaction
ENSMUSG00000027204	Fbn1 / Q61554 / Fibrillin-1 Asprosin / P35555* / fibrillin 1*	/ complex / reaction

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