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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,  1810031F23Rik,  ERdj3,  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
increased startle reflex Dnajb11tm1b(EUCOMM)Wtsi HET   Early adult 8.11×10-06
dilated aorta Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 7.03×10-05
increased circulating alkaline phosphatase level Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 6.82×10-06
preweaning lethality, incomplete penetrance Dnajb11tm1b(EUCOMM)Wtsi HOM   Early adult 0.00196

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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 Dorso Ventral

12 Images

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Electrocardiogram (ECG)

Waveform Image

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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
Elevated circulating creatinine concentration, Dilatation of the cerebral artery, Aortic root ane... 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, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... 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
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... OMIM:132900
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... ORPHA:3400
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Abnormal common carotid artery morphology,... ORPHA:449400
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Aortic dissection, Mucoid extracellular matrix accumulation OMIM:130090
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Thoracic aortic aneurysm, Aortic arch aneurysm, Pulmonary artery... OMIM:613834
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Descending thoracic aorta aneury... ORPHA:91387
Loeys-Dietz Syndrome 6
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... OMIM:619656
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Marfanoid Hypermobility Syndrome
Aortic aneurysm OMIM:154750
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Ascending aortic dissection, Aortic root aneurysm OMIM:619825
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Tricuspid Atresia
Transposition of the great arteries, Persistent left superior vena cava, Coarctation of aorta, Pu... ORPHA:1209
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collateral arte... OMIM:618780
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Aortic arch aneurysm, Aortic root aneurysm, Abdominal aortic ane... OMIM:617168
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Patent ductus arteriosus, Va... OMIM:606519
Takayasu Arteritis
Ascending tubular aorta aneurysm, Arterial stenosis, Vascular dilatation, Vasculitis ORPHA:3287
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:613854
Aortic Valve Disease 3
Aortic root aneurysm OMIM:618496
Temtamy Syndrome
Aortic aneurysm OMIM:218340
Loeys-Dietz Syndrome 4
Torticollis, Aortic tortuosity, Arterial tortuosity, Aortic dissection, Aortic root aneurysm, Asc... OMIM:614816
Rin2 Syndrome
Aortic aneurysm ORPHA:217335
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Persistent left superior vena cava, Overriding aorta, Aortic aneurysm ORPHA:477817
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Fragile X Syndrome
Ascending tubular aorta aneurysm ORPHA:908
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Hyperuricemia ORPHA:3222
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Aortic dissecti... OMIM:175050
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Thoracic aortic aneurysm, Dextr... OMIM:619657
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic dissection, Vascular dilatation, Aortic root aneurysm,... ORPHA:3342
Loeys-Dietz Syndrome 2
Carotid artery dilatation, Generalized arterial tortuosity, Pulmonary artery aneurysm, Ascending ... OMIM:610168
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Abnormal venous morphology, Aortic dissection, Vascular dilatation, Aortic a... ORPHA:1900
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal descending aorta morphology, Anomalous origin of left pulmonary artery from ascending ao... ORPHA:99050
Macs Syndrome
Dilation of Virchow-Robin spaces, Aortic aneurysm OMIM:613075
Monosomy 18Q
Aortic aneurysm, Choreoathetosis, Patent ductus arteriosus, Left aortic arch with right descendin... ORPHA:1600
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Giant Cell Arteritis
Abdominal aortic aneurysm, Aortic dissection, Vasculitis, Double outlet right ventricle with subp... ORPHA:397
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Coarctation of aorta ORPHA:3092
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Arterial tortuosity, Pulmonary artery dilatation, Aortic aneurysm, Gen... OMIM:614437
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Aortic tortuosity, Subarachnoid hemorrhage,... OMIM:613795
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Epidermal Nevus Syndrome
Aortic aneurysm ORPHA:35125
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Intracranial hemorrhage, Aortic aneurysm ORPHA:109
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Loeys-Dietz Syndrome
Arterial dissection, Arterial tortuosity, Aortic dissection, Patent ductus arteriosus, Vascular d... ORPHA:60030
Alport Syndrome
Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm ORPHA:63
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Cerebral cavernous malformation, Aortic root aneurysm OMIM:619910
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Ascending aortic dissection, Coarctation of a... ORPHA:402075
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Tremor, Patent ductus arteriosus OMIM:601808
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c, Abdominal aortic aneurysm OMIM:617253
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity OMIM:219100
Glycogen Storage Disease Due To Acid Maltase Deficiency
Thoracic aortic aneurysm, Abnormal internal carotid artery morphology, Elevated circulating creat... ORPHA:365
Autosomal Recessive Multiple Pterygium Syndrome
Aortic aneurysm ORPHA:2990
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Ascending aortic dissection, Arterial tortuosity, Patent ductus arteri... OMIM:609192
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:96121
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Stroke, Thoracic aortic aneurysm, Aortic root aneurysm, Ascending tubular aorta aneu... ORPHA:536467
Aicardi-Goutières Syndrome
Calcification of the aorta, Tremor, Moyamoya phenomenon, Aortic aneurysm, Dystonia ORPHA:51
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm OMIM:182212
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Aortic aneurysm ORPHA:261330
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Isometric tremor, Hyperbilirubinemia, Intention tremor, Head titubation, Dilatation ... OMIM:619475
Marfanoid Habitus With Situs Inversus
Persistent left superior vena cava, Aortic root aneurysm OMIM:609008
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Congenitally corrected transposition of the great arteries with ve... OMIM:617205
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm OMIM:309520
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic atherosclerotic lesion, Intracranial hemorrhage, Hypertriglyceridemia, Aortic root aneurys... ORPHA:363618
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Marfan Syndrome
Aortic tortuosity, Ascending aortic dissection, Arterial dissection, Pulmonary artery dilatation,... ORPHA:558
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Dextrotransposition of the great arteries, Coarctation of aorta, P... OMIM:270100
Kyphoscoliotic Ehlers-Danlos Syndrome
Aortic aneurysm, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Cerebral hemorrhage ORPHA:536545
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Cherry red spot of the macula, Increased serum ... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Abdominal aortic aneurysm, Dilatation of the sinus of V... ORPHA:284984
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Elevated circulating creatine kinase concentration, Exaggera... OMIM:253800
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Peripheral pulmonary artery stenosis, Coarctation of aorta,... ORPHA:90348
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Aortic aneurysm ORPHA:453504
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Aortic aneurysm ORPHA:352665
Larsen Syndrome
Aortic aneurysm OMIM:150250
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Single coronary artery origin, Double aortic arch, Right aortic ar... OMIM:619702
Osteogenesis Imperfecta
Cerebral hemorrhage, Arterial dissection, Aortic dissection, Aortic root aneurysm, Aortic aneurysm ORPHA:666
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm OMIM:619351
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
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
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Dilatation of the cerebral artery, Aortic root ane... ORPHA:730
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Peripheral arteriovenous fistula, Arteriovenous fistulas of celiac and mesenteric ve... ORPHA:286
Laubry-Pezzi Syndrome
Ascending tubular aorta aneurysm, Dilatation of the sinus of Valsalva, Patent ductus arteriosus, ... ORPHA:99094
Sandhoff Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm ORPHA:453499
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Prominent superficial veins, Aortic root aneurysm OMIM:618000
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Prominent superficial veins, Aortic aneurysm OMIM:612289
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm OMIM:301039
Neonatal Marfan Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm ORPHA:284979
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm ORPHA:444072
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
Viss Syndrome
Double outlet right ventricle, Carotid artery dilatation, Tortuous cerebral arteries, Abnormal br... OMIM:619472
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Marfan Syndrome
Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Aortic dissection, Aortic root ane... OMIM:154700
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Aortic aneurysm ORPHA:805
Spondylodysplastic Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Prominent scalp veins ORPHA:536471
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Hypertriglyceridemia, Aortic root aneurysm, Carotid artery stenosis, Va... ORPHA:536532
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cherry red spot of the macula ORPHA:79255
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm OMIM:121050
Phace Syndrome
Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Abnormal cerebral ... ORPHA:42775
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Elevated alpha-fetoprotein, Athetosis, Tremor, Patent ductu... ORPHA:280633
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm OMIM:145420
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
Peripheral pulmonary artery stenosis, Coarctation of aorta, Patent ductus arteriosus, Aortic root... OMIM:617506
Kawasaki Disease
Ascending tubular aorta aneurysm, Vasculitis, Double outlet right ventricle with subpulmonary ven... ORPHA:2331
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Blau Syndrome
Large vessel vasculitis, Aortic aneurysm ORPHA:90340
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Dystonia OMIM:618891
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm OMIM:135500
Koolen-De Vries Syndrome
Patent ductus arteriosus, Aortic root aneurysm OMIM:610443
Cockayne Syndrome Type 3
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Intention tremor, Aortic ... ORPHA:90324
Sotos Syndrome
Tremor, Patent ductus arteriosus, Hypercalcemia, Aortic aneurysm ORPHA:821
Williams Syndrome
Peripheral pulmonary artery stenosis, Stroke, Abnormal circulating lipid concentration, Abnormal ... ORPHA:904
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortopulmonary collateral arteries, Aortopulmonary window, Aortic ro... OMIM:620025
Loeys-Dietz Syndrome 5
Ascending aortic dissection, Aortic root aneurysm OMIM:615582
Opitz Gbbb Syndrome
Persistent left superior vena cava, Patent ductus arteriosus, 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
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
Hyperlipidemia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissectio... ORPHA:99413
Turner Syndrome
Hyperlipidemia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissectio... ORPHA:881
Mosaic Monosomy X
Hyperlipidemia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissectio... ORPHA:99228
Monosomy X
Hyperlipidemia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissectio... ORPHA:99226
Charge Syndrome
Aortic arch aneurysm, Interrupted aortic arch, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:138
Hypermobile Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Arterial dissection, Venous insufficiency ORPHA:285
1P36 Deletion Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Patent ductus arteriosus, Anomalous origin of... ORPHA:438213
Non-Specific Syndromic Intellectual Disability
Pulmonary artery dilatation, Aortic root aneurysm ORPHA:528084
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.

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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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