Manteia - Molecule gene

ENSMUSG00000006369

Mus musculus

Features

Gene ID:	ENSMUSG00000006369

Biological name :	Fbln1

Synonyms :	Fbln1 / Mus musculus fibulin 1 (Fbln1), transcript variant 2, mRNA. / Q08879

Possible biological names infered from orthology :	fibulin 1 / P23142

Species:	Mus musculus

Chr. number:	15
Strand:	1
Band:	E2
Gene start:	85205949
Gene end:	85286535

Corresponding Affymetrix probe sets:	10425945 (MoGene1.0st) 1422540_at (Mouse Genome 430 2.0 Array) 1439688_at (Mouse Genome 430 2.0 Array) 1451119_a_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000054583 Ensembl peptide - ENSMUSP00000105058 NCBI entrez gene - 14114 See in Manteia. MGI - MGI:95487 RefSeq - XM_006520437 RefSeq - NM_001347088 RefSeq - NM_010180 RefSeq Peptide - NP_001334017 RefSeq Peptide - NP_034310 swissprot - Q08879 swissprot - B2CQD6 Ensembl - ENSMUSG00000006369

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
FBLN1	ENSDARG00000103311	Danio rerio
FBLN1	ENSGALG00000014233	Gallus gallus
FBLN1	ENSG00000077942	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Fbln2 / P37889 / Fibulin-2 / P98095*	ENSMUSG00000064080	45
Fbn2 / Q61555 / Fibrillin-2 Fibrillin-2 C-terminal peptide / P35556* / fibrillin 2*	ENSMUSG00000024598	28
Fbn1 / Q61554 / Fibrillin-1 Asprosin / P35555* / fibrillin 1*	ENSMUSG00000027204	28
Ltbp4 / Q8K4G1 / Latent-transforming growth factor beta-binding protein 4 / Q8N2S1*	ENSMUSG00000040488	27
Ltbp1 / Q8CG19 / Latent-transforming growth factor beta-binding protein 1 / Q14766*	ENSMUSG00000001870	27
Ltbp2 / latent transforming growth factor beta binding protein 2 / Q14767*	ENSMUSG00000002020	26
Efemp2 / Q9WVJ9 / EGF-containing fibulin-like extracellular matrix protein 2 / O95967* / EGF containing fibulin extracellular matrix protein 2*	ENSMUSG00000024909	23
Ltbp3 / latent transforming growth factor beta binding protein 3 / Q9NS15*	ENSMUSG00000024940	23
Fbln5 / Q9WVH9 / Fibulin-5 / Q9UBX5*	ENSMUSG00000021186	22
Efemp1 / Q8BPB5 / EGF-containing fibulin-like extracellular matrix protein 1 / Q12805* / EGF containing fibulin extracellular matrix protein 1*	ENSMUSG00000020467	20

Protein motifs (from Interpro)

Interpro ID	Name
IPR000020	Anaphylatoxin/fibulin
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
IPR017048	Fibulin-1
IPR018097	EGF-like calcium-binding, conserved site
IPR026823	Complement Clr-like EGF domain

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001933	negative regulation of protein phosphorylation	ISO
biological_process	GO:0007162	negative regulation of cell adhesion	ISO
biological_process	GO:0007566	embryo implantation	IEA
biological_process	GO:0010628	positive regulation of gene expression	ISO
biological_process	GO:0010952	positive regulation of peptidase activity	IEA
biological_process	GO:0030198	extracellular matrix organization	IDA
biological_process	GO:0048146	positive regulation of fibroblast proliferation	ISO
biological_process	GO:0070373	negative regulation of ERK1 and ERK2 cascade	ISO
biological_process	GO:0072378	blood coagulation, fibrin clot formation	ISO
biological_process	GO:1900025	negative regulation of substrate adhesion-dependent cell spreading	ISO
biological_process	GO:1904188	negative regulation of transformation of host cell by virus	ISO
biological_process	GO:1904237	positive regulation of substrate-dependent cell migration, cell attachment to substrate	ISO
biological_process	GO:2000146	negative regulation of cell motility	ISO
biological_process	GO:2000647	negative regulation of stem cell proliferation	ISO
biological_process	GO:2001202	negative regulation of transforming growth factor-beta secretion	ISO
cellular_component	GO:0005576	extracellular region	ISO
cellular_component	GO:0005577	fibrinogen complex	ISO
cellular_component	GO:0005604	basement membrane	IDA
cellular_component	GO:0005615	extracellular space	ISO
cellular_component	GO:0031012	extracellular matrix	ISO
cellular_component	GO:0071953	elastic fiber	ISO
molecular_function	GO:0001968	fibronectin binding	ISO
molecular_function	GO:0005178	integrin binding	ISO
molecular_function	GO:0005201	extracellular matrix structural constituent	ISO
molecular_function	GO:0005509	calcium ion binding	ISO
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0008022	protein C-terminus binding	ISO
molecular_function	GO:0016504	peptidase activator activity	IDA
molecular_function	GO:0042802	identical protein binding	ISO
molecular_function	GO:0044877	protein-containing complex binding	IEA
molecular_function	GO:0070051	fibrinogen binding	ISO

Pathways (from Reactome)

Pathway description

Molecules associated with elastic fibres

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000030	abnormal tympanic ring morphology	"malformed bony ring at the ear canal to which the tympanic membrane is attached" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:23837]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0000102	abnormal nasal bone morphology	"malformed elongated rectangular bone that forms part of the nasal bridge" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0000107	abnormal frontal bone morphology	"malformed bone forming the forehead and part of the eye orbit" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0000109	abnormal parietal bone morphology	"malformed curved bone forming part of the vault of the cranium" [J:17489]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0000208	decreased hematocrit	"less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0000266	abnormal cardiac morphology	"anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Lepr^db/Lepr^db,Serpine1^tm1Mlg/Serpine1^tm1Mlg Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BLKS/J
MP:0000273	overriding aorta	"congenitally mispositioned aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left." [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:67826]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6 Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: B6.129P2-Fbln1^{Gt(XST011)Byg} Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^tm1Tmpl Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
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: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6 Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^tm1Tmpl Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0000438	abnormal skull morphology	"anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Lepr^db/Lepr^db,Serpine1^tm1Mlg/Serpine1^tm1Mlg Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BLKS/J
MP:0000564	syndactyly	"any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Adamts9^tm1Dgen/Adamts9^tm1Dgen,Fbln1^{Gt(XST011)Byg}/Fbln1⁺ Genetic Background: B6.129P2-Adamts9^tm1Dgen Fbln1^{Gt(XST011)Byg}
MP:0000571	interdigital webbing	"fold of skin, or web, between the toes that is not normally present" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Adamts9^tm1Dgen/Adamts9^tm1Dgen,Vcan^{Tg(Hoxa1)1Chm}/Vcan⁺ Genetic Background: B6.Cg-Adamts9^tm1Dgen Vcan^{Tg(Hoxa1)1Chm}
MP:0000933	abnormal rhombomere morphology	"malformation of the transverse segments in the hindbrain region of the developing neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0001056	abnormal cranial nerve morphology	"any anomaly, deformity, or malformation of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:45302]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0001073	abnormal glossopharyngeal nerve morphology	"malformed or misprojection of sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue" [Principles of Neural Science:ISBN 0-8385-8034-3, J:33038]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0001074	abnormal vagus nerve morphology	"malformed or misprojection of autonomic, sensory and motor axons of the tenth cranial nerve to the pharynx, larynx, trachea, lungs, heart and GI tract" [Principles of Neural Science:ISBN 0-8385-8034-3, J:33038]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
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: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0001183	overexpanded alveoli	"expanded volume of the saclike terminal dilation of the respiratory bronchioles" [J:66345]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0001265	reduced body size	"smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0001614	abnormal vasculature	"anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0001634	internal hemorrhage	"blood loss in the interior of the body due to vessel rupture or dysmorphology " [J:23170]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0001823	thymus hypoplasia	"small size due to reduced cell number in the thymus" [J:23255]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0001914	hemorrhage	"loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0001915	intracranial hemorrhage	"bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0001916	intracerebral hemorrhage	"bleeding within the cerebrum" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0001951	abnormal breathing	"irregular or atypical breathing pattern " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:17489]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0001954	respiratory distress	"physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0002127	abnormal cardiovascular system morphology	"abnormal development of the heart or vascular tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Lepr^db/Lepr^db,Serpine1^tm1Mlg/Serpine1^tm1Mlg Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BLKS/J
MP:0002260	abnormal thyroid cartilage morphology	"any structural anomaly of the largest of the laryngeal cartilages " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0002270	abnormal alveoli morphology	"any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0002276	abnormal lung interstitium morphology	"any structural anomaly of the lung tissue, but not including the conducting airways (bronchi, bronchioles, alveoli) " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0002639	micrognathia	"abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0002820	abnormal premaxilla morphology	"malformation or absence of the anterior and inner portion of the maxilla" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:76662]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0003499	thyroid hypoplasia		Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0003641	small lung	"reduced size of the lung relative to normal" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95332]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0003658	abnormal capillaries	"malformation in the minute blood vessels that connect arterioles and venules" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96775]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0004160	retroesophageal right subclavian artery	"the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0004568	fusion of glossopharyngeal and vagus nerve	"union of the ninth and tenth cranial nerves into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0005325	abnormal glomerulus	"anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
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: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0006030	abnormal otic vesicle formation	"anomalous formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:57313:]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0006054	spinal hemorrhage	"bleeding into the spine" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0006203	eye hemorrhage	"bleeding into the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0008059	abnormal podocyte foot process morphology	"any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0008816	petechiae	"very small blood spots or splotches that appear especially in skin as a result of localized hemorrhage" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0010402	ventricular septal defect	"abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6 Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: B6.129P2-Fbln1^{Gt(XST011)Byg} Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^tm1Tmpl Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0010403	atrial septal defect	"abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6 Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: B6.129P2-Fbln1^{Gt(XST011)Byg} Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^tm1Tmpl Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0010404	ostium primum atrial septal defect	"interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum" [http://emedicine.medscape.com, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0010405	ostium secundum atrial septal defect	"large interatrial communication (atrial septal defect) through the center of the wall between the atria at the site of the foramen ovale and the ostium secundum" [http://emedicine.medscape.com, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * 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: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0010420	muscular ventricular septal defect	"abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * 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: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0010465	aberrant origin of the right subclavian artery	"the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0010502	ventricle myocardium hypoplasia	"underdevelopment or reduced size, usually due to a reduced number of cells, of the ventricular part of the heart myocardium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0011086	partial postnatal lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
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: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0011090	partial perinatal lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0011359	decreased glomerular capillary number	"reduced number of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles" [MGI:csmith]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0011453	abnormal glomerular capillary endothelium morphology	"any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms" [MGI:anna]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0011509	dilated glomerular capillary	"stretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole" [MGI:anna]	Show Allelic Composition: Pcdh15^av-6J/Pcdh15^av-6J Genetic Background: B6(129P2)-Pcdh15^av-6J
MP:0012261	increased hindbrain apoptosis	"increase in the number of cells of the hindbrain undergoing programmed cell death" [MGI:anna]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6
MP:0012729	abnormal common carotid artery morphology	"any structural anomaly of the left or right common carotid arteries which extend headward on each side of the anterior neck and deliver oxygenated nutrient filled blood from the heart to the head, neck and brain; the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery" [MGI:anna]	Show Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg} Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000026193	Fn1 / P11276 / Fibronectin Anastellin / P02751* / fibronectin 1*	/ complex / reaction

1 s.

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