Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal retina blood vessel morphology Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 3.53×10-11
abnormal retina morphology Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 3.49×10-12
increased startle reflex Dnajb11tm1b(EUCOMM)Wtsi HET   Early adult 8.11×10-06
preweaning lethality, incomplete penetrance Dnajb11tm1b(EUCOMM)Wtsi HOM   Early adult 0.00196
increased circulating alkaline phosphatase level Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 6.82×10-06
abnormal retina vasculature morphology Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 2.47×10-12
dilated aorta Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 7.03×10-05
persistence of hyaloid vascular system Dnajb11tm1b(EUCOMM)Wtsi HET Early adult 1.47×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

48 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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
Aortic root aneurysm, Elevated circulating creatinine concentration, Abnormal systemic arterial m... 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
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Macular coloboma, Coarctation of aorta, Retinal coloboma OMIM:107550
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c... ORPHA:231736
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Eales Disease
Ischemic stroke, Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, ... ORPHA:40923
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Aortic aneurysm ORPHA:1777
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Ascending tubular aorta aneurysm, Arterial tortuosity OMIM:132800
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis OMIM:257970
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arter... OMIM:193220
Phace Association
Optic atrophy, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Coarctation of aorta... OMIM:606519
Smooth Muscle Dysfunction Syndrome
Retinal infarction, Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery... OMIM:613834
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Elevated circulating C-reactive protei... ORPHA:449400
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Aortic tortuosity, Thoracic aortic aneurysm OMIM:616166
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Aortic aneurysm OMIM:218340
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Takayasu Arteritis
Vascular dilatation, Vasculitis, Ascending tubular aorta aneurysm, Retinopathy, Arterial stenosis ORPHA:3287
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Aortic tortuosity, Coarctation of aorta, Ascending a... OMIM:614823
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-vent... ORPHA:3400
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Des... ORPHA:91387
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Microphthalmia/Coloboma 12
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr... ORPHA:231160
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Exaggerated startle response, Optic disc pallor OMIM:609541
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Macular degeneration, Abnormal aortic morphology, R... ORPHA:63
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascending aortic dissection OMIM:619825
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Exaggerated startle response, Optic disc pallor ORPHA:320406
Gm2 Gangliosidosis, Ab Variant
Dystonia, Cherry red spot of the macula, Exaggerated startle response ORPHA:309246
Seckel Syndrome 10
Retinal detachment, Elevated hemoglobin A1c, Hypertriglyceridemia, Abdominal aortic aneurysm OMIM:617253
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Aortic aneurysm, Retinal detachment, Arterial dissection, Aortic dissection,... ORPHA:1900
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Transposition of the great arteries, Retinal dysplasia, Retinal detachment, Elevat... OMIM:253800
Ectopia Lentis 1, Isolated, Autosomal Dominant
Aortic root aneurysm, Retinal detachment OMIM:129600
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas... ORPHA:91495
Monosomy 18Q
Patent ductus arteriosus, Aortic aneurysm, Left aortic arch with right descending aorta and right... ORPHA:1600
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm OMIM:620070
Giant Cell Arteritis
Optic atrophy, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal def... ORPHA:397
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Punctate vasculitis skin lesions, Abnormal ... ORPHA:247691
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Persistent left superior vena cava, Overriding aorta, Double outlet right ventricle, Aortic aneurysm ORPHA:477817
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Exaggerated startle response OMIM:616881
Loeys-Dietz Syndrome 6
Arterial tortuosity, Vertebral artery aneurysm, Transient ischemic attack, Aortic tortuosity, Ver... OMIM:619656
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Rin2 Syndrome
Aortic aneurysm ORPHA:217335
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Tetralogy of Fallot, Aortopulmon... OMIM:618780
Loeys-Dietz Syndrome 4
Arterial tortuosity, Torticollis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic ... OMIM:614816
Pierson Syndrome
Posterior lenticonus, Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular syste... OMIM:609049
Chromosome 18Q Deletion Syndrome
Optic atrophy, Ascending tubular aorta aneurysm, Tremor, Patent ductus arteriosus, Rod-cone dystr... OMIM:601808
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Vascular dilatation, Aortic aneurysm, Aortic root aneurysm, P... ORPHA:3342
Marfan Syndrome
Dilatation of an abdominal artery, Aortic aneurysm, Aortic root aneurysm, Retinal detachment, Asc... ORPHA:558
Fragile X Syndrome
Ascending tubular aorta aneurysm ORPHA:908
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:610168
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal optic nerve morphology, Arteriovenous malformation, Intracranial hemorrhage, Aortic aneu... ORPHA:109
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Tay-Sachs Disease
Optic atrophy, Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Dystoni... ORPHA:845
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Macs Syndrome
Dilation of Virchow-Robin spaces, Aortic aneurysm OMIM:613075
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrotransposition of the great arteries, Left superi... OMIM:619657
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Stroke, Peripapillary atroph... ORPHA:536467
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Cerebral arteriov... OMIM:175050
Phace Syndrome
Abnormal carotid artery morphology, Retinal vascular malformation, Aortic root aneurysm, Optic ne... ORPHA:42775
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Exaggerated startle response OMIM:617864
Lateral Meningocele Syndrome
Aortic aneurysm, Patent ductus arteriosus OMIM:130720
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Torticollis, Aortic aneurysm, Hyperbilirubinemia, Coloboma, Intention tremor, H... OMIM:619475
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Aortic aneurysm, Patent ductus arteriosus ORPHA:96121
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Coloboma, Abnormal optic nerve morphology, Aortic aneurysm ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Coloboma, Abnormal optic nerve morphology, Aortic aneurysm ORPHA:352665
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Blau Syndrome
Large vessel vasculitis, Aortic aneurysm, Abnormal optic nerve morphology, Retinopathy, Abnormal ... ORPHA:90340
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Coarctation of aorta, Patent ductus arteriosus ORPHA:3092
Autosomal Recessive Multiple Pterygium Syndrome
Aortic aneurysm ORPHA:2990
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:268800
Epidermal Nevus Syndrome
Aortic aneurysm ORPHA:35125
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Patent ductus arteriosus OMIM:620327
Loeys-Dietz Syndrome 3
Dilatation of the cerebral artery, Arterial tortuosity, Aortic aneurysm, Tortuous cerebral arteri... OMIM:613795
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Transient ischemic attack, Elevated circulating creatine kinase concentration, Abnorm... ORPHA:365
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Exaggerated startle response OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Transposition of the great arteries, Aortic root aneurysm OMIM:619910
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Patent ductus arteriosus OMIM:620185
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm OMIM:182212
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Loeys-Dietz Syndrome
Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Arterial dissection, Aortic dissection... ORPHA:60030
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Aortic aneurysm ORPHA:261330
Aicardi-Goutières Syndrome
Calcification of the aorta, Moyamoya phenomenon, Aortic aneurysm, Tremor, Dystonia ORPHA:51
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Asparagine Synthetase Deficiency
Optic nerve hypoplasia, Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cockayne Syndrome Type 3
Premature coronary artery atherosclerosis, Retinal dystrophy, Aortic root aneurysm, Stroke, Retin... ORPHA:90324
Tuberous Sclerosis Complex
Retinal hamartoma, Aortic aneurysm, Chorioretinal hypopigmentation, Pulmonary lymphangiomyomatosi... ORPHA:805
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Intraventricular hemorrhage, Aortic aneurysm ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Intraventricular hemorrhage, Aortic aneurysm ORPHA:363958
Cutis Laxa, Autosomal Recessive, Type Ia
Vascular tortuosity, Ascending tubular aorta aneurysm, Peripheral pulmonary artery stenosis OMIM:219100
Marfan Syndrome
Aortic root aneurysm, Retinal detachment, Ascending tubular aorta aneurysm, Aortic dissection, Pu... OMIM:154700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm OMIM:309520
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spondylodysplastic Ehlers-Danlos Syndrome
Optic nerve hypoplasia, Ascending tubular aorta aneurysm, Prominent scalp veins, Optic disc colob... ORPHA:536471
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Persistent left superior vena cava OMIM:609008
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm, Coloboma ORPHA:453499
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response ORPHA:79255
Heterotaxy, Visceral, 5, Autosomal
Partial anomalous pulmonary venous return, Ascending tubular aorta aneurysm, Pulmonary artery atr... OMIM:270100
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic dissect... OMIM:300989
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Epidural hemorrhage, Abnormal branching pattern... OMIM:619472
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Cerebral hemorrhage, Aortic aneurysm ORPHA:536545
Intellectual Developmental Disorder, Autosomal Dominant 73
Aortic aneurysm OMIM:620450
Aneurysm-Osteoarthritis Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Patent ductus arteriosus, Arterial tortuo... ORPHA:284984
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Aortic root aneurysm, Iris coloboma, Retinal coloboma, Patent ductus arteriosus OMIM:620654
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Osteogenesis Imperfecta
Aortic aneurysm, Aortic root aneurysm, Arterial dissection, Aortic dissection, Cerebral hemorrhage ORPHA:666
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Arterial tortuosity, Aortic root aneurysm, Ascending tubular aorta ane... OMIM:614437
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Coarctation of aorta, Aortic arch aneurysm, Ascending aortic dissec... ORPHA:402075
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Remnants of the hyaloid vascular system, Epiretinal membrane, Abnormal optic n... ORPHA:637
Alkaptonuria
Coronary artery calcification, Atherosclerosis, Aortic aneurysm ORPHA:56
Larsen Syndrome
Aortic aneurysm OMIM:150250
Autosomal Dominant Cutis Laxa
Coarctation of aorta, Peripheral pulmonary artery stenosis, Dilatation of the ventricular cavity,... ORPHA:90348
Microphthalmia, Syndromic 2
Hypoplastic aortic arch, Retinal detachment, Remnants of the hyaloid vascular system, Patent duct... OMIM:300166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Coronary artery atherosclerosis, Aortic root aneurysm, Intracranial hemorrh... ORPHA:363618
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic root aneurysm, Aortic tortuosity, Pulmonary artery stenosis, Generalized ... OMIM:208050
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Optic nerve hypoplasia, Coarctation of aorta, Pate... OMIM:617506
Acromelic Frontonasal Dysostosis
Persistent falcine venous sinus, Optic nerve hypoplasia, Dilation of Virchow-Robin spaces, Remnan... OMIM:603671
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins OMIM:618000
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:609192
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Vascular dilatation, Hypokalemia, Aortic aneurysm, Arteriovenous fistu... ORPHA:286
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Patent ductus arteriosus OMIM:619351
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Vasculitis, Ascending tubular aorta aneury... ORPHA:2331
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm OMIM:301039
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Fontaine Progeroid Syndrome
Aortic aneurysm, Prominent superficial veins, Patent ductus arteriosus OMIM:612289
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Optic nerve hypoplasia, Aortopulmonary window, Pulmonary artery hypoplasia,... OMIM:620025
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Venous insu... ORPHA:649
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Patent ductus arteriosus ORPHA:404443
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm ORPHA:444072
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Dystonia, Exaggerated startle response OMIM:620423
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
X Small Rings
Aortic root aneurysm, Congenital stationary night blindness ORPHA:96201
Neonatal Marfan Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm ORPHA:284979
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle OMIM:616652
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Anomalous origin of right coronary artery from the pulmonary artery, A... OMIM:616462
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Elevated circulating creatinine concentration, Abnormal systemic arterial m... ORPHA:730
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Ascending tubular aorta aneurysm, Elevated circulating C-reactive protei... OMIM:620376
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Ascending tubular aorta aneurysm, Abnormal coronary artery m... ORPHA:99094
Charge Syndrome
Optic atrophy, Interrupted aortic arch, Coloboma, Aortic arch aneurysm, Tetralogy of Fallot, Chor... ORPHA:138
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Patent ductus arteriosus OMIM:121050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Transposition of the great arteries, Ascending tubular aorta aneurysm, Truncus arteriosus, Tremor... OMIM:612474
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Coarctation of aorta OMIM:617602
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm OMIM:145420
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis, Va... ORPHA:536532
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Aortic root aneurysm, Tremor, Athetosis, Elevated circulating alpha-fetoprotein concentration, Pa... ORPHA:280633
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus OMIM:610443
Holoprosencephaly 2
Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm ORPHA:449291
Williams Syndrome
Abnormal carotid artery morphology, Retinal arteriolar tortuosity, Abnormal circulating lipid con... ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Exaggerated startle response, Dystonia, Decreased cir... ORPHA:438213
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
1P36 Deletion Syndrome
Optic atrophy, Aortic arch aneurysm, Tetralogy of Fallot, Patent ductus arteriosus, Ocular albinism ORPHA:1606
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm OMIM:245600
Zimmermann-Laband Syndrome 1
Aortic root aneurysm, Aortic arch aneurysm, Patent ductus arteriosus OMIM:135500
Neuroocular Syndrome
Lens coloboma, Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Dystonia OMIM:618891
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Ascending aortic dissection OMIM:615582
Sotos Syndrome
Aortic aneurysm, Tremor, Hypercalcemia, Patent ductus arteriosus ORPHA:821
Cutis Laxa, Autosomal Recessive, Type Iid
Ascending tubular aorta aneurysm OMIM:617403
Opitz Gbbb Syndrome
Aortic root aneurysm, Coarctation of aorta, Persistent left superior vena cava, Patent ductus art... ORPHA:2745
Restrictive Dermopathy
Ascending tubular aorta aneurysm, Transposition of the great arteries, Patent ductus arteriosus ORPHA:1662
Hypermobile Ehlers-Danlos Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Venous insufficiency, Arterial dissection ORPHA:285
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Arterial dissection, Aortic dissection, Coarctation of aorta, Gastrointesti... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Arterial dissection, Aortic dissection, Coarctation of aorta, Gastrointesti... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Arterial dissection, Aortic dissection, Coarctation of aorta, Gastrointesti... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Arterial dissection, Aortic dissection, Coarctation of aorta, Gastrointesti... ORPHA:99226
Au-Kline Syndrome
Aortic root aneurysm OMIM:616580
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Aortic root aneurysm, Tetralogy of Fallot, Optic disc coloboma, Patent ductus arte... OMIM:607872
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Patent ductus arteriosus ORPHA:444077
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Arteriovenous fistula, Dilatation of the cerebral artery, Arterial dissection ORPHA:287
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Patent ductus arteriosus OMIM:619522
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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dnajb11 -Kidney supDevelops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice. Journal of the American Society of Nephrology : JASN (June 2023) Dnajb11tm1c(EUCOMM)Wtsi Dnajb11tm1a(EUCOMM)Wtsi 37332102

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
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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