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Gene: Tmbim1 MGI:1916910

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
transmembrane BAX inhibitor motif containing 1
Synonyms:
2310061B02Rik

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tmbim1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tmbim1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Igg4-Related Aortitis
Thoracic aortic aneurysm, Elevated circulating C-reactive protein concentration, Abnormal aortic ... ORPHA:449400
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Dimethylglycine Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce... ORPHA:243343
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection OMIM:619825
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... OMIM:619656
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Takayasu Arteritis
Ascending tubular aorta aneurysm, Vasculitis, Arterial stenosis, Vascular dilatation ORPHA:3287
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Hyperuricemia ORPHA:3222
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Saccharopinuria
Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull... ORPHA:3124
Temtamy Syndrome
Aortic aneurysm OMIM:218340
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co... OMIM:617253
Fragile X Syndrome
Ascending tubular aorta aneurysm ORPHA:908
Rin2 Syndrome
Aortic aneurysm ORPHA:217335
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm OMIM:620070
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Overriding aorta, Persistent left superior vena cava, Aortic aneurysm ORPHA:477817
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... OMIM:175050
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal circulating enzyme concentration or activity, Aortic dissection, Arterial dissection, Ab... ORPHA:1900
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Loeys-Dietz Syndrome 4
Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic dissection, A... OMIM:614816
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary venous return, An... OMIM:619657
Glycogen Storage Disease Due To Acid Maltase Deficiency
Abnormal circulating enzyme concentration or activity, Transient ischemic attack, Thoracic aortic... ORPHA:365
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... ORPHA:3342
Giant Cell Arteritis
Vasculitis, Aortic dissection, Hepatic failure, Double outlet right ventricle with subpulmonary v... ORPHA:397
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... ORPHA:99050
Macs Syndrome
Dilation of Virchow-Robin spaces, Aortic aneurysm OMIM:613075
Boudin-Mortier Syndrome
Aortic root aneurysm, Elevated alkaline phosphatase of bone origin OMIM:619543
Epidermal Nevus Syndrome
Aortic aneurysm ORPHA:35125
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Coarctation of aorta ORPHA:3092
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation OMIM:619910
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Patent ductus arteriosu... ORPHA:1600
Lateral Meningocele Syndrome
Patent ductus arteriosus, Aortic aneurysm OMIM:130720
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... ORPHA:60030
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity OMIM:219100
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Arteriovenous malformation, Aortic aneurysm ORPHA:109
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Stroke, Abnormality of circulating enzyme level, Atherosclerosis ORPHA:93598
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... OMIM:613795
Autosomal Recessive Multiple Pterygium Syndrome
Aortic aneurysm ORPHA:2990
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Persistent left superior vena cava OMIM:609008
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level ORPHA:35706
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... OMIM:609192
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm OMIM:182212
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Moyamoya phenomenon, Calcification of the aorta, Prolonged neonata... ORPHA:51
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Patent ductus arteriosus OMIM:601808
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aortic root aneurysm, Stroke ORPHA:536467
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Aortic aneurysm ORPHA:261330
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm OMIM:309520
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:96121
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dextrotransposition of the g... OMIM:270100
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesio... ORPHA:363618
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Patent ductus arteriosus, Dilatation of the cerebral artery, Aortic dissecti... ORPHA:284984
Marfan Syndrome
Descending aortic dissection, Dilatation of an abdominal artery, Ascending tubular aorta aneurysm... ORPHA:558
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm OMIM:619351
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Jaundice, Dilatation of the cerebral artery, Hyperbilirubinemia, A... OMIM:619475
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracerebral hemorrhage, Aortic aneurysm ORPHA:536545
Kawasaki Disease
Jaundice, Vasculitis, Hepatitis, Ascending tubular aorta aneurysm, Double outlet right ventricle ... ORPHA:2331
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Arterial Tortuosity Syndrome
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Gene... OMIM:208050
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar... ORPHA:90348
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Aortic aneurysm ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Aortic aneurysm ORPHA:352665
Larsen Syndrome
Aortic aneurysm OMIM:150250
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm OMIM:301039
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Ascending tubular aorta aneurysm, Patent ductus arteriosus, ... ORPHA:99094
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Aortic root aneurysm, Elevated circulating creatinine concentr... ORPHA:730
Osteogenesis Imperfecta
Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial dissection, Aortic aneurysm ORPHA:666
Koolen-De Vries Syndrome Due To A Point Mutation
Intraventricular hemorrhage, Aortic aneurysm ORPHA:363965
17Q21.31 Microdeletion Syndrome
Intraventricular hemorrhage, Aortic aneurysm ORPHA:363958
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm ORPHA:453499
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle OMIM:616652
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Arteriovenous f... ORPHA:286
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm ORPHA:444072
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Prominent superficial veins, Aortic aneurysm OMIM:612289
Neonatal Marfan Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm ORPHA:284979
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Coarctation of aorta OMIM:617602
Tuberous Sclerosis Complex
Aortic aneurysm, Pulmonary lymphangiomyomatosis ORPHA:805
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Ascending tubular aorta aneurysm ORPHA:536471
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm OMIM:145420
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm OMIM:121050
Marfan Syndrome
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Aortic disse... OMIM:154700
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... OMIM:619472
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... OMIM:614437
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Aortic r... ORPHA:536532
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm ORPHA:449291
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta, Aortic root aneurysm, Pe... OMIM:617506
Blau Syndrome
Large vessel vasculitis, Aortic aneurysm ORPHA:90340
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta aneurysm, Transposition o... OMIM:612474
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmonary collateral arteries, Aortopulmo... OMIM:620025
Koolen-De Vries Syndrome
Patent ductus arteriosus, Aortic root aneurysm OMIM:610443
Cutis Laxa, Autosomal Recessive, Type Iid
Ascending tubular aorta aneurysm OMIM:617403
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm OMIM:135500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Elevated circulating alpha-fetoprotein concentrat... ORPHA:280633
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Ascending aortic dissection OMIM:615582
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Subdural hemorrhage, Aortic root aneurysm, Stroke, Vascular calcif... ORPHA:90324
Opitz Gbbb Syndrome
Patent ductus arteriosus, Persistent left superior vena cava, Aortic root aneurysm, Coarctation o... ORPHA:2745
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm OMIM:245600
Sotos Syndrome
Prolonged neonatal jaundice, Patent ductus arteriosus, Hypercalcemia, Aortic aneurysm ORPHA:821
Restrictive Dermopathy
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Transposition of the great arteries ORPHA:1662
X Small Rings
Aortic root aneurysm ORPHA:96201
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Elevated hepatic transaminase, Coarctation of aorta, Gastrointestinal angio... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Elevated hepatic transaminase, Coarctation of aorta, Gastrointestinal angio... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Elevated hepatic transaminase, Coarctation of aorta, Gastrointestinal angio... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Elevated hepatic transaminase, Coarctation of aorta, Gastrointestinal angio... ORPHA:99226
Williams Syndrome
Aortic arch aneurysm, Abnormal circulating lipid concentration, Overriding aorta, Hypercalcemia, ... ORPHA:904
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm OMIM:618891
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection ORPHA:285
Charge Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot, Interrupted aortic arch ORPHA:138
Au-Kline Syndrome
Aortic root aneurysm OMIM:616580
1P36 Deletion Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:1606
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Patent ductus arteriosus, Aortic root aneurysm ORPHA:444077
Classical Ehlers-Danlos Syndrome
Arterial dissection, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fistula ORPHA:287
Chromosome 1P36 Deletion Syndrome, Distal
Patent ductus arteriosus, Aortic root aneurysm, Tetralogy of Fallot OMIM:607872

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tmbim1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tmbim1.

No publications found that use IMPC mice or data for Tmbim1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tmbim1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmbim1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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