ENSMUSG00000053626


Mus musculus

Features
Gene ID: ENSMUSG00000053626
  
Biological name :Tll1
  
Synonyms : Tll1 / tolloid-like
  
Possible biological names infered from orthology : O43897 / tolloid like 1
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: B3.1
Gene start: 64014931
Gene end: 64206271
  
Corresponding Affymetrix probe sets: 10578880 (MoGene1.0st)   1420753_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000147695
Ensembl peptide - ENSMUSP00000070560
NCBI entrez gene - 21892     See in Manteia.
MGI - MGI:106923
RefSeq - NM_009390
RefSeq - XM_006509314
RefSeq - XM_011242185
RefSeq Peptide - NP_033416
swissprot - G3X9F5
swissprot - A0A1B0GRW8
Ensembl - ENSMUSG00000053626
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tll1ENSDARG00000037429Danio rerio
 TLL1ENSGALG00000009567Gallus gallus
 TLL1ENSG00000038295Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tll2 / Q9WVM6 / Tolloid-like protein 2 / Q9Y6L7* / tolloid like 2*ENSMUSG0000002501370
Bmp1 / P98063 / Bone morphotic protein 1 / P13497* / bone morphogenetic protein 1*ENSMUSG0000002209869
Cubn / Q9JLB4 / Cubilin / O60494*ENSMUSG0000002672628
Mfrp / Q8K480 / Membrane frizzled-related protein / Q9BY79*ENSMUSG0000003473912
Cdcp2 / Q8BQH6 / CUB domain-containing protein 2 / Q5VXM1*ENSMUSG0000004763612
Neto2 / Q8BNJ6 / Mus musculus neuropilin (NRP) and tolloid (TLL)-like 2 (Neto2), transcript variant 1, mRNA. / Q8NC67* / neuropilin and tolloid like 2*ENSMUSG0000003690211
Q8R4W6 / Pcolce2 / Procollagen C-endopeptidase enhancer 2 / Q9UKZ9*ENSMUSG0000001535411
Pcolce / Q61398 / Procollagen C-endopeptidase enhancer 1 / Q15113* / procollagen C-endopeptidase enhancer*ENSMUSG0000002971810
Neto1 / Q8R4I7 / Neuropilin and tolloid-like protein 1 / Q8TDF5* / neuropilin and tolloid like 1*ENSMUSG0000005032110


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR000859  CUB domain
 IPR001506  Peptidase M12A
 IPR001881  EGF-like calcium-binding domain
 IPR006026  Peptidase, metallopeptidase
 IPR013032  EGF-like, conserved site
 IPR015446  Bone morphogenetic protein 1/tolloid-like protein
 IPR018097  EGF-like calcium-binding, conserved site
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR034036  Tolloid/BMP1 peptidase domain
 IPR035914  Spermadhesin, CUB domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Degradation of the extracellular matrix
Collagen biosynthesis and modifying enzymes
Anchoring fibril formation
Crosslinking of collagen fibrils


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000061 fragile skeleton "easily damaged or broken bones" [J:14208]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0000133 abnormal long bone metaphysis morphology "malformed conical section of bone between the epiphysis and diaphysis of the long bones" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61295]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 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]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0000272 abnormal aorta morphology "structural anomaly of the main trunk of the systemic arteries" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Runx1tm2Dow/Runx1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
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Allelic Composition: Tll1b2b2476Clo/Tll1b2b2476Clo
Genetic Background: C57BL/6J-Tll1b2b2476Clo

 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]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Allelic Composition: Tll1b2b2476Clo/Tll1b2b2476Clo
Genetic Background: C57BL/6J-Tll1b2b2476Clo

 MP:0000286 abnormal mitral valve morphology "malformation of the valve between the left atrium and the left ventricle of the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0000299 failure of endocardial cushion closure "failure of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices" [J:29971]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0000558 abnormal tibia morphology "atructural anomaly of the medial and larger of the two bones of the lower leg" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Hoxa5tm1.1Ljea/Hoxa5tm1.1Ljea,Tg(Hoxa5-cre)447BLjea/0
Genetic Background: involves: 129/Sv * C57BL/6 * CBA * SJL

 MP:0002397 abnormal bone marrow morphology "structural anomalies in the soft tissue that fills the cavities of bones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0002746 abnormal semilunar valve morphology "malformation of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:82728]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0002896 abnormal bone mineralization "defect in the process by which minerals are deposited into bone" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0003408 increased width of hypertrophic chondrocyte zone "increased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0003755 abnormal palate "anomaly in the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) " [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Tll1b2b2476Clo/Tll1b2b2476Clo
Genetic Background: C57BL/6J-Tll1b2b2476Clo

 MP:0003888 liver hemorrhage "bleeding within the liver" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0004056 abnormal myocardial compact layer morphology "malformation of the outer, dense layer of the myocardium " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Tll1b2b2476Clo/Tll1b2b2476Clo
Genetic Background: C57BL/6J-Tll1b2b2476Clo

 MP:0004068 dilated dorsal aorta "an expansion in the volume of the dorsal region of the main trunk of the systemic arteries" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0004214 abnormal long bone diaphysis morphology "any structural anomaly of the main or mid section (shaft) of a long bone" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0004509 abnormal pelvic girdle bone morphology "any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton " [MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0004627 abnormal trochanter morphology "any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0004675 rib fractures "a crack or break in the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0004783 abnormal cardinal vein morphology "any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0004984 increased osteoclast cell number "greater than average number of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0004987 abnormal osteoblast cell number "deviation from the average number of the bone-forming cells, which normally form an osseous matrix (osteoid) in which they become enclosed as an osteocytes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0004991 decreased bone strength "reduced ability of bone to endure the application of force without yielding or breaking" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0004992 increased bone resorption "greater than average amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0006065 abnormal heart position "the heart is displaced from the normal left-sided position and/or orientation" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Allelic Composition: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 MP:0006138 congestive heart failure "the heart is unable to adequately pump blood throughout the body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Allelic Composition: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 MP:0006397 disorganized long bone epiphyseal plate "a lack of the regular arrangement of the cells or zones of the epiphyseal plate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0006398 increased long bone epiphyseal plate size "greater than the normal size of the cartilaginous center of ossification on the long bones permitting growth of the bone in both directions during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0008753 abnormal osteocyte morphology "any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in small cavities called lacuna and is connected to adjacent osteocytes via protoplasmic projections called canaliculi" [MESH:A.11.329.629.500]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0009283 decreased gonadal fat pad weight "less than average weight of the encapsulated adipose tissue associated with the ovaries or testes" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0009293 decreased inguinal fat pad weight 
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0009445 osteomalacia "gradual softening and bending of the bones due to failure of osteoid tissue to calcify as a result of vitamin D deficiency or renal tubular dysfunction" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0009868 abnormal descending thoracic aorta morphology "any structural anomaly of the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest" [http://www.medterms.com "MedicineNet.com"]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * 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]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Allelic Composition: Tll1b2b2476Clo/Tll1b2b2476Clo
Genetic Background: C57BL/6J-Tll1b2b2476Clo

 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"]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 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: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * 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]
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Allelic Composition: Tll1b2b2476Clo/Tll1b2b2476Clo
Genetic Background: C57BL/6J-Tll1b2b2476Clo

 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]
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Allelic Composition: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

Allelic Composition: Tll1b2b2476Clo/Tll1b2b2476Clo
Genetic Background: C57BL/6J-Tll1b2b2476Clo

 MP:0010433 double inlet heart left ventricle "congenital heart defect in which both atriums are connected to the left ventricle, with a hypoplastic right ventricle often present, which may be on the opposite side of the heart to the usua" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0010585 abnormal conotruncal ridge morphology "any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:8823298]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0010869 decreased bone trabecula number "decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0010872 increased trabecular bone mass "greater total amount of trabecular bone tissue contained in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0010924 abnormal osteoid morphology "any structural anomaly of newly formed organic bone matrix secreted by osteoblasts, that exists prior to calcification; it is comprised mainly of type I collagen fibers, chondroitin sulfate and osteocalcin" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0010965 decreased compact bone volume 
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 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: Bmp1tm1Blh/Bmp1tm1Blh,Tll1tm1Dgr/Tll1tm1Dgr
Genetic Background: involves: 129 * Black Swiss

 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: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 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: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0013624 decreased femur compact bone thickness "reduced width of the superficial layer of compact bone at the midpoint of the femur" [MGI:csmith]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0013626 decreased femur yield load "decrease in load (N) on the femur at which elastic deformation ends" [MGI:jwhite]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0013630 increased bone trabecular spacing "increase in the amount of space between trabeculae in cancellous bone" [MGI:jwhite]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0013633 decreased femur maximal load "decrease in the maximal load (N) sustained by the femur" [MGI:jwhite]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0013638 decreased femur stiffness "decrease in material stiffness (N/mm) during elastic deformation in the femur" [MGI:jwhite]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0013646 decreased energy dissipated prior to femur fracture "decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur" [MGI:jwhite]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0013941 abnormal enthesis morphology "any structural anomaly of the connective tissue between tendon and bone insertion sites; the area which acts to transmit tensile load from soft tissues to bone; they may be of the dense fibrous connective tissue or fibrocartilage type; fibrous entheses attach directly to bone or periosteum primarily via fibrous tissue, and fibrocartilaginous entheses attach to bone through a transitional layer of fibrocartilage from the fibrous tendon tissue" [PMID:25489552]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0020010 decreased bone mineral density of femur "reduction in the amount of mineral per square centimeter of bone (usually g/cm2) in the long bone of the thigh" [GOC:NV]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0020039 increased bone ossification "increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0030484 abnormal osteocyte lacuna morphology "any structural anomaly of the small cavity within the bone matrix that is occupied by an osteocyte cell body, and from which slender canaliculi radiate and penetrate the adjacent lamellae to anastomose with the canaliculi of neighboring lacunae, thus forming a system of cavities interconnected by minute canals" [https://medical-dictionary.thefreedictionary.com/osteocyte+lacuna]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

 MP:0030487 abnormal osteocyte dendritic process morphology "any structural anomaly of the long, slender cytoplasmic processes by which mature osteocytes communicate with one another, receive mechanosensory signals and participate in the regulation of bone turnover; these processes radiate from the osteocyte cell body, run along narrow canaliculi, and are linked to other neighboring osteocytes processes by gap junctions, as well as to cytoplasmic processes of osteoblasts and bone lining cells on the bone surface" [https://www.hindawi.com/journals/bmri/2015/421746/, PMID:24419319]
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Allelic Composition: Bmp1tm1.1Dgr/Bmp1tm1.1Dgr,Tll1tm2.1Dgr/Tll1tm2.1Dgr,Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic Background: involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000028763 Hspg2 / perlecan (heparan sulfate proteoglycan 2) / P98160* / heparan sulfate proteoglycan 2*  / reaction
 ENSMUSG00000024529 Lox / P28301 / Protein-lysine 6-oxidase / P28300* / lysyl oxidase*  / reaction
 ENSMUSG00000032334 Loxl1 / lysyl oxidase like 1 / Q08397*  / reaction






 

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