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Gene: Dnajb11 MGI:1915088

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Gene Summary

Name:
DnaJ heat shock protein family (Hsp40) member B11
Synonyms:
ABBP-2,  ERdj3,  1810031F23Rik,  Dj9

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Dnajb11tm1b(EUCOMM)Wtsi HOM   Early adult 0.00196
dilated aorta Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 7.03×10-05
increased startle reflex Dnajb11tm1b(EUCOMM)Wtsi HET   Early adult 8.11×10-06
increased circulating alkaline phosphatase level Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 6.82×10-06

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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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Electrocardiogram (ECG)

Waveform Image

48 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Human diseases caused by Dnajb11 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.

The table below shows human diseases associated to Dnajb11 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Aortic root aneurysm, Elevated circulating creatinine concentr... ORPHA:730
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
OMIM:618061

The table below shows human diseases predicted to be associated to Dnajb11 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
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
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
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
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Igg4-Related Aortitis
Thoracic aortic aneurysm, Elevated circulating C-reactive protein concentration, Abnormal aortic ... ORPHA:449400
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... OMIM:619656
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection OMIM:619825
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Takayasu Arteritis
Ascending tubular aorta aneurysm, Vasculitis, Arterial stenosis, Vascular dilatation ORPHA:3287
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Loeys-Dietz Syndrome 4
Torticollis, Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic ... OMIM:614816
Temtamy Syndrome
Aortic aneurysm OMIM:218340
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Overriding aorta, Persistent left superior vena cava, Aortic aneurysm ORPHA:477817
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm OMIM:620070
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Rin2 Syndrome
Aortic aneurysm ORPHA:217335
Fragile X Syndrome
Ascending tubular aorta aneurysm ORPHA:908
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Hyperuricemia ORPHA:3222
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... OMIM:175050
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... ORPHA:3342
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary venous return, An... OMIM:619657
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascular dilatation, Aortic a... ORPHA:1900
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Monosomy 18Q
Choreoathetosis, Left aortic arch with right descending aorta and right ductus arteriosus, Patent... ORPHA:1600
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
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Giant Cell Arteritis
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:397
Lateral Meningocele Syndrome
Patent ductus arteriosus, Aortic aneurysm OMIM:130720
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Coarctation of aorta ORPHA:3092
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Seckel Syndrome 10
Abdominal aortic aneurysm, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation OMIM:619910
Epidermal Nevus Syndrome
Aortic aneurysm ORPHA:35125
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... OMIM:613795
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Patent ductus arteriosus OMIM:620327
Chromosome 18Q Deletion Syndrome
Tremor, Ascending tubular aorta aneurysm, Patent ductus arteriosus OMIM:601808
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... ORPHA:60030
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Arteriovenous malformation, Aortic aneurysm ORPHA:109
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Autosomal Recessive Multiple Pterygium Syndrome
Aortic aneurysm ORPHA:2990
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Elevated circulating creatine kinase concentration, Thoracic aortic an... ORPHA:365
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aortic root aneurysm, St... ORPHA:536467
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... OMIM:609192
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity OMIM:219100
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm OMIM:182212
Aicardi-Goutières Syndrome
Tremor, Calcification of the aorta, Aortic aneurysm, Dystonia, Moyamoya phenomenon ORPHA:51
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Persistent left superior vena cava OMIM:609008
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:96121
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Isometric tremor, Head titubation, Aortic aneurysm, Dilatation of the cerebral arter... OMIM:619475
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dystonia, Cherry red s... ORPHA:845
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Aortic aneurysm ORPHA:261330
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Transposition of the great arteries, Elevated circulating creatine ... OMIM:253800
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm OMIM:309520
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
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
Marfan Syndrome
Descending aortic dissection, Dilatation of an abdominal artery, Ascending tubular aorta aneurysm... ORPHA:558
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Patent ductus arteriosus, Dilatation of the cerebral artery, Aortic dissecti... ORPHA:284984
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracerebral hemorrhage, Aortic aneurysm ORPHA:536545
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:268800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
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
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Osteogenesis Imperfecta
Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial dissection, Aortic aneurysm ORPHA:666
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm OMIM:619351
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar... ORPHA:90348
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
Larsen Syndrome
Aortic aneurysm OMIM:150250
Arterial Tortuosity Syndrome
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Gene... OMIM:208050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm ORPHA:453499
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:79255
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Aortic root aneurysm, Elevated circulating creatinine concentr... ORPHA:730
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Ascending tubular aorta aneurysm, Patent ductus arteriosus, ... ORPHA:99094
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Arteriovenous f... ORPHA:286
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm OMIM:301039
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Prominent superficial veins, Aortic aneurysm OMIM:612289
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
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm ORPHA:444072
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Ascending tubular aorta aneurysm ORPHA:536471
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Neonatal Marfan Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm ORPHA:284979
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... OMIM:619472
Tuberous Sclerosis Complex
Aortic aneurysm, Pulmonary lymphangiomyomatosis ORPHA:805
Marfan Syndrome
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Aortic disse... OMIM:154700
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
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta aneurysm, Transpo... OMIM:612474
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm OMIM:121050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Elevated circulating alpha-fetoprotein concentration, Tremor, Patent ductus arteriosus, Athetosis... ORPHA:280633
Kawasaki Disease
Ascending tubular aorta aneurysm, Vasculitis, Double outlet right ventricle with subpulmonary ven... ORPHA:2331
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... OMIM:614437
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm OMIM:145420
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Aortic r... ORPHA:536532
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta, Aortic root aneurysm, Pe... OMIM:617506
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Blau Syndrome
Large vessel vasculitis, Aortic aneurysm ORPHA:90340
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm ORPHA:449291
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Koolen-De Vries Syndrome
Patent ductus arteriosus, Aortic root aneurysm OMIM:610443
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Dystonia OMIM:618891
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm OMIM:135500
Cutis Laxa, Autosomal Recessive, Type Iid
Ascending tubular aorta aneurysm OMIM:617403
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Ascending aortic dissection OMIM:615582
Sotos Syndrome
Tremor, Patent ductus arteriosus, Hypercalcemia, Aortic aneurysm ORPHA:821
Cockayne Syndrome Type 3
Subdural hemorrhage, Premature coronary artery atherosclerosis, Aortic root aneurysm, Stroke, Vas... ORPHA:90324
Williams Syndrome
Aortic arch aneurysm, Overriding aorta, Hypercalcemia, Elevated circulating creatine kinase conce... ORPHA:904
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm OMIM:245600
Opitz Gbbb Syndrome
Patent ductus arteriosus, Persistent left superior vena cava, Aortic root aneurysm, Coarctation o... ORPHA:2745
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmonary collateral arteries, Aortopulmo... OMIM:620025
Restrictive Dermopathy
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Transposition of the great arteries ORPHA:1662
X Small Rings
Aortic root aneurysm ORPHA:96201
Charge Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot, Interrupted aortic arch ORPHA:138
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection ORPHA:285
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... ORPHA:99226
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Patent ductus arteriosus, Anomalous origin of... ORPHA:438213
Au-Kline Syndrome
Aortic root aneurysm OMIM:616580
1P36 Deletion Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:1606
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
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
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Patent ductus arteriosus, Exaggerated startle response OMIM:619522
Chromosome 1P36 Deletion Syndrome, Distal
Patent ductus arteriosus, Aortic root aneurysm, Tetralogy of Fallot OMIM:607872
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
OMIM:618061

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 Dnajb11

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 Dnajb11.

No publications found that use IMPC mice or data for Dnajb11.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dnajb11tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Dnajb11tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dnajb11tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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