Gene Summary

enhancer trap locus 4
9430077C05Rik,  E330027G05Rik,  Sickle tail,  6620402G01Rik,  Etl-4,  Skt

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 Etl4em1(IMPC)Bay HOM Early adult 5.81×10-20
decreased prepulse inhibition Etl4em1(IMPC)Bay HOM Early adult 4.35×10-06

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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.

Phenotype associated images not available

Human diseases caused by Etl4 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 Etl4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Scheuermann Disease
Morbus Scheuermann, Osteochondrosis, Kyphosis OMIM:181440
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... OMIM:604864
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the ankles, Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology ORPHA:163665
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu varum, Platyspondyly, Genu valgum OMIM:608361
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Irregular vertebral endplates, Platyspondyly, Genu va... OMIM:609223
Cervical platyspondyly, Scoliosis, Camptodactyly of finger OMIM:600000
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Scoliosis, Platyspondyly ORPHA:93302
Morquio Syndrome C
Platyspondyly OMIM:252300
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Genu varum, Platyspondyly, Irregular acetabular roof OMIM:617974
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Vertebral wedging, Platyspondyly, Advanced ossification of carpal bones, Flat acetabu... OMIM:617719
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly OMIM:616583
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Brachyolmia Type 1, Hobaek Type
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... OMIM:271530
Pseudodiastrophic Dysplasia
Elbow dislocation, Scoliosis, Platyspondyly, Phalangeal dislocation ORPHA:85174
Osteoarthritis, Kyphoscoliosis, Joint dislocation, Platyspondyly, Genu valgum, Anisospondyly, Enl... ORPHA:85198
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly OMIM:271600
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Knee osteoarthritis, Platyspondyly, Abnormality of the wrist, Joint subluxati... ORPHA:2619
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Scoliosis, Platyspondyly OMIM:618728
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Biconcave flattened vertebrae, Wormian bones, Abnormal joint morphology OMIM:166230
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly ORPHA:93283
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Brachyolmia Type 1, Toledo Type
Intervertebral space narrowing, Irregular vertebral endplates, Kyphoscoliosis, Back pain, Short n... OMIM:271630
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Platyspondyly, Genu valgum OMIM:609324
Gm1-Gangliosidosis, Type Iii
Hypoplastic acetabulae, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly ORPHA:168555
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates OMIM:612847
Anauxetic Dysplasia 1
Short neck, Platyspondyly, Cervical subluxation, Delayed ossification of carpal bones OMIM:607095
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Spondylolisthesis, Cervical spondylosis, Osteoarthritis OMIM:184300
Multiple Epiphyseal Dysplasia Type 5
Abnormal acetabulum morphology, Genu varum, Abnormal hip joint morphology, Multiple small vertebr... ORPHA:93311
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Arthritis, Sh... OMIM:184100
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Platyspondyly ORPHA:85172
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly OMIM:156510
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Platyspondyly OMIM:184840
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Abnormality of the ... ORPHA:99642
Pyle Disease
Scoliosis, Platyspondyly, Limited elbow extension, Genu valgum OMIM:265900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Bruck Syndrome 1
Ankle flexion contracture, Vertebral wedging, Platyspondyly, Knee flexion contracture, Kyphosis, ... OMIM:259450
Gm1-Gangliosidosis, Type Ii
Platyspondyly OMIM:230600
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Kyphoscoliosis, Platyspondyly, Enlarged joints, Severe carpal ossifica... OMIM:184252
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu varum, Abnormality of the k... ORPHA:1159
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Wormian b... OMIM:610967
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Knee flexion contracture, Kyphosis, Enlarged joints, Thoracolumbar scoliosis OMIM:313420
Atelosteogenesis, Type Ii
Flat acetabular roof, Increased intervertebral space, Coronal cleft vertebrae, Horizontal sacrum,... OMIM:256050
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly ORPHA:1345
Progressive Pseudorheumatoid Dysplasia
Genu varum, Decreased cervical spine mobility, Kyphoscoliosis, Enlarged interphalangeal joints, P... OMIM:208230
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Spondylometaphyseal Dysplasia, Type A4
Irregular patellae, Flat acetabular roof, Platyspondyly, Ovoid vertebral bodies OMIM:609052
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae OMIM:608681
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Irregular vertebral endplates, Multiple joint dislocation, Platyspondyly, Dislo... OMIM:618395
Pseudodiastrophic Dysplasia
Tongue-like lumbar vertebral deformities, Phalangeal dislocation, Platyspondyly, Elbow dislocatio... OMIM:264180
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Lumbar hyperlordosis, Short neck, Platyspondyly OMIM:184000
Flat acetabular roof, Genu varum, Increased laxity of ankles, Irregular acetabular roof, Beaking ... ORPHA:750
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Intervertebral space narrowing, Platyspondyly, Herniati... OMIM:601216
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Arthropathy, Limitation ... OMIM:203500
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Abnormality of the elbow, Abnormal vertebral morphology, Beaking of vertebral bodies, Kyphoscolio... ORPHA:93359
Sillence Syndrome
Flat acetabular roof, Abnormal vertebral morphology, Intervertebral disc degeneration, Platyspond... ORPHA:3168
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Platyspondyly, Genu valgum, Hypoplastic sacrum, Limited elbow extension, ... OMIM:271650
Osteogenesis Imperfecta, Type Ix
Wormian bones, Scoliosis, Platyspondyly, Kyphosis OMIM:259440
Metatropic Dysplasia
Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospondyly, Caudal appendage, En... OMIM:156530
Ollier Disease
Abnormal cartilage morphology, Platyspondyly, Multiple enchondromatosis ORPHA:296
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormal lumbar spine morphology, Premature osteoarthritis, Limited elbow mo... ORPHA:93284
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormality of the knee, Irregular acetabular roof, Kyphosco... ORPHA:93316
Osteogenesis Imperfecta, Type Vi
Biconcave vertebral bodies, Vertebral compression fracture, Beaking of vertebral bodies, Protrusi... OMIM:613982
Spondylometaphyseal Dysplasia, Axial
Platyspondyly OMIM:602271
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Brachyolmia Type 3
Short neck, Scoliosis, Platyspondyly, Kyphosis OMIM:113500
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Bruck Syndrome
Wormian bones, Platyspondyly, Kyphosis, Pterygium, Scoliosis ORPHA:2771
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Platyspondyly, Kyphosis, Short neck, Scoliosis, Lumbar hyperlordosis, Hump-sh... OMIM:313400
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal form of the vertebral bodies, Platyspondyly ORPHA:1426
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Wormian bones, Platyspondyly OMIM:601356
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly ORPHA:71267
Microspherophakia-Metaphyseal Dysplasia
Flattened moderately deformed vertebrae, Spinal stenosis with reduced interpedicular distance OMIM:157151
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly OMIM:619598
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Platyspondyly, Elbow flexion contracture OMIM:601561
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Abnormal acetabulum morphology, Intervertebral space narrowing, Lumba... ORPHA:166011
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly OMIM:615220
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Ovoid vertebral bodies, Limited elbow extension, Flat acetabular roof, Lumbar hype... OMIM:608728
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Irregular acetabular roof, Irregular vertebral endplates, Distal tibial bowing, Platy... OMIM:156500
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Scoliosis, Platyspondyly, Irregular vertebral endplates OMIM:234250
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, ... OMIM:609616
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Irregular vertebral endplates ORPHA:250984
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Joint contracture of the 5th finger, Genu valgum, Platyspondyly, Irregular vertebral endplates OMIM:601668
Osteogenesis Imperfecta, Type Xvii
Vertebral compression fracture, Scoliosis, Platyspondyly OMIM:616507
Bruck Syndrome 2
Wormian bones, Knee flexion contracture, Platyspondyly, Pterygium, Elbow flexion contracture OMIM:609220
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Thoracic kyphosis, Platyspondyly OMIM:619638
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormal hip joint morphology, Platyspondyly, Ovoid vertebral bodies, Limited elbow extension, Ab... ORPHA:1856
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Dislocated radial head, Wormian bones, Platyspondyly, Scoliosis OMIM:614856
Smith-Mccort Dysplasia 1
Genu varum, Beaking of vertebral bodies, Hypoplastic acetabulae, Platyspondyly, Atlantoaxial inst... OMIM:607326
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Platyspondyly, Vertebral hypoplasia, Central vertebral hypoplasia, Narrow vertebral i... OMIM:602557
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Platyspondyly, Genu valgum, Hyperlordosis, Hypoplasia of the odontoid process,... OMIM:184250
Stickler Syndrome Type 1
Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology ORPHA:90653
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Thoracic platy... OMIM:618961
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Flat acetabular roof, Genu varum, In... ORPHA:93314
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Cervical instability, Abnormal vertebral morphology, Platyspondyly, Delayed ossification of carpa... ORPHA:93346
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Synostosis of carpal bones, Platyspondyly, Genu valgum, Osteoarthritis... ORPHA:93351
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Cervical platyspondyly, Irregular acetabular roof, Kyphoscoliosis,... OMIM:169170
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Vertebral... ORPHA:93352
Calvarial Doughnut Lesions With Bone Fragility
Scoliosis, Platyspondyly OMIM:126550
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormality of the elbow, Platyspondyly, Abnormality of cranial sutures, Ovoid vertebral bodies, ... ORPHA:163649
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Coronal cleft vertebrae, Hypoplastic vertebral bodies, Platyspondyly, ... ORPHA:2347
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Pear-shaped vertebrae, Platyspondyly, Limited elbow extension, Irregular sclerotic en... OMIM:602111
Combined Oxidative Phosphorylation Deficiency 47
Short neck, Platyspondyly OMIM:618958
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Short neck, Platyspondyly, Cervical kyphosis OMIM:245160
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Absent ossification of th... OMIM:601376
Genu varum, Beaking of vertebral bodies, Osteoarthritis, Irregular carpal bones, Platyspondyly, G... OMIM:177170
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Platyspondyly, Hip dislocation, Carpal synostosis, Advanced ossification of carpa... OMIM:615349
Geroderma Osteodysplastica
Biconcave vertebral bodies, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, P... ORPHA:2078
Chondroectodermal Dysplasia With Night Blindness
Abnormal patella morphology, Abnormality of the knee, Platyspondyly ORPHA:319195
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Abnormality of the curvature of the vertebral column, Genu varum, Multiple joint dislocation, Kyp... ORPHA:93360
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly ORPHA:157965
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscol... OMIM:231070
Stickler Syndrome, Type I
Morbus Scheuermann, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Spondylolisthesis, Arth... OMIM:108300
Osteogenesis Imperfecta, Type Xxi
Wormian bones, Scoliosis, Platyspondyly OMIM:619131
Kniest Dysplasia
Coronal cleft vertebrae, Platyspondyly, Hip dislocation, Abnormal cartilage collagen, Enlarged jo... OMIM:156550
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Severe platyspondyly, Scoliosis, Platyspondyly, Ovoid vertebral bodies OMIM:608940
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Platyspondyly ORPHA:93267
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Dyggve-Melchior-Clausen Syndrome, X-Linked
Platyspondyly, Genu valgum, Carpal bone hypoplasia, Thoracic kyphosis, Hypoplastic sacrum, Short ... OMIM:304950
Fibrochondrogenesis 2
Platyspondyly OMIM:614524
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Platyspondyly, Atlantoaxial instability, Kyphosis, Ovoid vertebral bodies... OMIM:183900
Mucopolysaccharidosis, Type Iva
Cervical subluxation, Platyspondyly, Large elbow, Ovoid vertebral bodies, Kyphosis, Genu valgum, ... OMIM:253000
Odontochondrodysplasia 1
Flat acetabular roof, Genu varum, Coronal cleft vertebrae, Platyspondyly, Genu recurvatum, Scolio... OMIM:184260
Kniest Dysplasia
Coronal cleft vertebrae, Vertebral wedging, Abnormal joint morphology, Platyspondyly, Fused cervi... ORPHA:485
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal joint morphology, Abnormal vertebral morphology, Osteoarthritis... ORPHA:1427
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Severe platyspondyly, Flat acetabular roof, Disc-like vertebral bodies OMIM:151210
Thanatophoric Dysplasia, Type Ii
Platyspondyly OMIM:187601
Infantile Liver Failure Syndrome 3
Beaking of vertebral bodies, Abnormal acetabulum morphology, Platyspondyly, Hypoplastic vertebral... OMIM:618641
Scoliosis, Platyspondyly ORPHA:166272
Smith-Mccort Dysplasia 2
Short neck, Hypoplasia of the odontoid process, Platyspondyly, Genu valgum OMIM:615222
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Beaking of vertebral bodies, Platyspondyly, Enlarged joints, Premature o... OMIM:215150
Spondylo-Ocular Syndrome
Short neck, Abnormal intervertebral disk morphology, Thoracic kyphosis, Platyspondyly ORPHA:85194
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Kyphoscoliosis, Joint contracture of the hand, Platyspondyly, Disl... OMIM:612350
Spondyloepiphyseal Dysplasia Congenita
Flat acetabular roof, Cervical instability, Limited elbow movement, Platyspondyly, Back pain, Kyp... ORPHA:94068
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Kyphosis, Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:616294
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Beaking of vertebral bodies, Hypoplastic acetabulae, Broad c... ORPHA:239
Mucopolysaccharidosis, Type Ivb
Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Genu valgum, Hyperlordosis... OMIM:253010
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Abnormal vertebral morphology, Irregular vertebral endplates, Platyspondyly, Lumbar h... ORPHA:174
Lowry-Wood Syndrome
Elbow dislocation, Dislocated radial head, Platyspondyly, Patellar dislocation ORPHA:1824
Hypoplastic vertebral bodies, Platyspondyly, Irregular vertebral endplates ORPHA:1782
Desbuquois Dysplasia 1
Flat acetabular roof, Genu varum, Radioulnar dislocation, Platyspondyly, Joint dislocation, Kypho... OMIM:251450
Metaphyseal Acroscyphodysplasia
Biconcave vertebral bodies, Genu varum, Craniosynostosis, Platyspondyly, Hypoplasia of the odonto... OMIM:250215
Saul-Wilson Syndrome
Wide anterior fontanel, Platyspondyly OMIM:618150
Czech Dysplasia
Intervertebral space narrowing, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, ... OMIM:609162
Cantu Syndrome
Short neck, Platyspondyly, Cuboid-shaped vertebral bodies, Ovoid vertebral bodies OMIM:239850
Axial Spondylometaphyseal Dysplasia
Flat acetabular roof, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the vertebrae,... ORPHA:168549
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Wide anterior fontanel, Platyspondyly, Kyphosis OMIM:616482
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Platyspondyly, Genu valgum, Hip subluxation, Wide anterior fontanel,... OMIM:618853
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Joint dislocation, Platyspondyly, Kyphosis, Genu valgum, Hyperlordosis, Sh... ORPHA:582
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Irregular carpal bones, Platyspondyly, Genu valgum, Hip dislocatio... OMIM:226980
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly OMIM:300863
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck, Platyspondyly OMIM:612813
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Biconcave vertebral bodies, Intervertebral space narrowing, Genu varum, Vertebral fusion, Vertebr... ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short neck, Craniosynostosis, Thoracolumbar scoliosis, Platyspondyly OMIM:616723
Hypophosphatasia, Infantile
Craniosynostosis, Unossified vertebral bodies, Platyspondyly, Widely patent fontanelles and sutur... OMIM:241500
Platyspondylic Dysplasia, Torrance Type
Genu varum, Abnormality of the carpal bones, Platyspondyly ORPHA:85166
Schwartz-Jampel Syndrome, Type 1
Coronal cleft vertebrae, Flexion contracture of toe, Kyphoscoliosis, Platyspondyly, Joint contrac... OMIM:255800
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Wormian bones, Thoracic kyphosis, Short neck, Hypoplasia of the odontoid process OMIM:300232
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Short neck, Severe platyspondyly, Wormian bones OMIM:613320
Schimke Immunoosseous Dysplasia
Platyspondyly, Ovoid vertebral bodies, Shallow acetabular fossae, Thoracic kyphosis, Short neck, ... OMIM:242900
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Wormian bones, Kyphosis OMIM:166220
Hall-Riggs Syndrome
Scoliosis, Platyspondyly ORPHA:2107
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Platyspondyly, Genu valgum, Carpal bone hypoplasia, Lumbar hyperlordosis OMIM:184253
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Wormian bones, Kyphosis, Vertebral compression fracture, Wide anterior fontanel, D... OMIM:610915
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly OMIM:166210
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis OMIM:618476
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Platyspondyly, Thoracolumbar kyphosis, Kyphosis, Ge... OMIM:253220
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Joint dislocation, Platys... ORPHA:1190
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Cervical instability, Kyphoscoliosis, Dislocated radial head, Platyspondyly, Delayed ossification... OMIM:617425
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Biconcave vertebral bodies, Genu varum, Kyphoscoliosis, Platyspondyly, Genu valgum, Delayed ossif... OMIM:271510
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly ORPHA:163966
Dyggve-Melchior-Clausen Disease
Flat acetabular roof, Genu varum, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Genu valg... OMIM:223800
Spondyloperipheral Dysplasia
Platyspondyly, Kyphosis, Limited elbow extension, Flat acetabular roof, Acetabular spurs OMIM:271700
Osteogenesis Imperfecta, Type X
Vertebral compression fracture, Scoliosis, Platyspondyly, Genu valgum OMIM:613848
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Scoliosis OMIM:618731
Desbuquois Dysplasia 2
Knee dislocation, Genu varum, Platyspondyly, Hip dislocation, Advanced ossification of carpal bon... OMIM:615777
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Beaking of vertebral bodies, Kyphoscoliosis, Cubitus valgus, Craniosynos... ORPHA:457395
Thanatophoric Dysplasia, Type I
Severe platyspondyly OMIM:187600
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Platyspondyly, Cuboid-shaped vertebral bodies, Anterior scalloping of vertebral b... OMIM:611717
Acromesomelic Dysplasia 4
Genu varum, Beaking of vertebral bodies, Platyspondyly, Genu valgum, Thoracic platyspondyly, Thor... OMIM:619636
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Platyspondyly, Wide anterior fontanel, Hypoplastic vertebral bodies, Sho... OMIM:245190
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Joint contracture of the hand, Platyspondyly, Wide anterior fonta... OMIM:228520
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Wide anterior fontanel, Platyspondyly, Kyphosis ORPHA:1860
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short neck, Wormian bones, Platyspondyly OMIM:616897
Spondyloenchondrodysplasia With Immune Dysregulation
Increased intervertebral space, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Joi... OMIM:607944
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short neck, Platyspondyly, Cuboid-shaped vertebral bodies, Ovoid vertebral bodies ORPHA:1517
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Platyspondyly, Elbow flexion contracture OMIM:612394
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Aneurysm-Osteoarthritis Syndrome
Knee osteoarthritis, Intervertebral disc degeneration, Osteoarthritis of the small joints of the ... ORPHA:284984
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Vertebral wedging OMIM:617866
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Severe platyspondyly, Scoliosis, Hypoplastic vertebral bodies, Short neck, Flat acetabular roof OMIM:258480
Trisomy 20P
Abnormal form of the vertebral bodies, Platyspondyly, Kyphosis, Camptodactyly of finger, Short ne... ORPHA:261318
Increased intervertebral space, Delayed closure of the anterior fontanelle, Irregular vertebral e... OMIM:224300
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Platyspondyly, Kyphosis, Hyperlordosis, Camptodactyly of f... ORPHA:354
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Ovoid vertebral bodies, Shallow acetabular fossae, Short neck, Lumbar hyperlordosis ORPHA:1830
Cervical platyspondyly, Anterior beaking of thoracic vertebrae, Scoliosis, Lumbar hyperlordosis, ... OMIM:230000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Beaking of vertebral bodies, Multiple joint dislocation, Kyphoscoliosi... ORPHA:536467
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Knee dislocation, Multiple joint dislocation, Craniosynostosis, Shoulder dislocation, Platyspondy... OMIM:245600
Osteogenesis Imperfecta, Type I
Biconcave flattened vertebrae, Wormian bones OMIM:166200
Atelosteogenesis, Type I
Knee dislocation, Coronal cleft vertebrae, Multinucleated giant chondrocytes in epiphyseal cartil... OMIM:108720
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Large knee, Scoliosis, Platyspondyly OMIM:619269
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Cervical instability, Craniosynostosis, Abnormality of the cervic... ORPHA:508533
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular vertebral endplates, Platyspondyly, Short neck, Flat acetabular roof, Carpal bone hypop... OMIM:610442
Arthritis, Juvenile rheumatoid arthritis, Platyspondyly, Kyphosis ORPHA:1855
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Platyspondyly, Acetabular dysplasia, Hypoplastic vertebral bo... ORPHA:79255
Greenberg Dysplasia
Costal cartilage calcification, Absent or minimally ossified vertebral bodies, Abnormal joint mor... OMIM:215140
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration, Craniosynostosis, Spon... OMIM:613795
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Ovoid vertebral bodies ORPHA:85167
Otopalatodigital Syndrome, Type Ii
Spondylolysis, Delayed closure of the anterior fontanelle, Wormian bones, Platyspondyly, Congenit... OMIM:304120
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Platyspondyly OMIM:259770
Spondylodysplastic Ehlers-Danlos Syndrome
Coronal cleft vertebrae, Abnormality of the elbow, Abnormal vertebral morphology, Beaking of vert... ORPHA:536471
Occipital Horn Syndrome
Capitate-hamate fusion, Limited knee extension, Platyspondyly, Genu valgum, Kyphosis, Limited elb... OMIM:304150
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Schwartz-Jampel Syndrome
Flexion contracture of toe, Abnormally straight spine, Platyspondyly, Wormian bones, Kyphosis, Ge... ORPHA:800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Ovoid verte... OMIM:271640
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Abnormal calcification of the carpal bones, Platyspondyly, Atlantoaxial instab... OMIM:271665
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Kyphoscoliosis, Joint dislocation, Platyspondyly, Congenital hi... OMIM:225400
Marshall Syndrome
Platyspondyly OMIM:154780
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Short neck, Wafer-thin platyspondyly OMIM:602613
Kyphomelic Dysplasia
Flat acetabular roof, Platyspondyly, Pterygium OMIM:211350
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Anterior wedging of T12, Limited elbow extension, Delayed ossification o... OMIM:300106
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly OMIM:102700
Osteoglophonic Dysplasia
Short neck, Craniosynostosis, Platyspondyly OMIM:166250
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly ORPHA:93317
Atypical Werner Syndrome
Intervertebral disc degeneration, Chondrocalcinosis ORPHA:79474
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sponastrime Dysplasia
Abnormality of the vertebral column, Biconcave vertebral bodies, Kyphoscoliosis, Hyperconvex vert... ORPHA:93357
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Platyspondyly ORPHA:50945
Stickler Syndrome
Spinal canal stenosis, Abnormal form of the vertebral bodies, Joint dislocation, Platyspondyly, K... ORPHA:828
Spondylolysis, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Spondylolisthesis, Scoliosis OMIM:208400
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Joint contracture of the hand, Platyspondyly, Kyphosis, Genu valgum, Hip dislocat... OMIM:309000
Occipital Horn Syndrome
Platyspondyly, Kyphosis, Synostosis of joints, Hip dislocation, Abnormality of the wrist, Genu va... ORPHA:198
Alpha-Mannosidosis, Infantile Form
Craniosynostosis, Platyspondyly, Genu valgum, Talipes valgus, Short neck ORPHA:309282
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Platyspondyly, Knee flexion contracture, Cleft vertebral arch, Hip dislocation, Absent knee epiph... OMIM:210710
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Myhre Syndrome
Platyspondyly ORPHA:2588
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly OMIM:263520
Myhre Syndrome
Platyspondyly, Enlarged vertebral pedicles, Short neck, Vertebral fusion OMIM:139210
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Flat acetabular roof, Platyspondyly OMIM:250220
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Oculocerebrorenal Syndrome Of Lowe
Arthritis, Platyspondyly, Genu valgum, Kyphosis, Hip dislocation, Patellar dislocation, Scoliosis... ORPHA:534
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Genu varum, Abnormal joint morphology, Irregular vertebral endplates, Broad carpal bones, Platysp... ORPHA:99646
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Fontaine Progeroid Syndrome
Craniosynostosis, Platyspondyly, Wide anterior fontanel, Coronal craniosynostosis, Scoliosis OMIM:612289
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the vertebral column, Abnormal vertebral morphology, Platyspondyly, Kyphosis, Camp... ORPHA:2273
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Sandhoff Disease
Exaggerated startle response OMIM:268800
Tay-Sachs Disease
Tremor, Exaggerated startle response ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response ORPHA:438213
Kyphoscoliosis, Platyspondyly ORPHA:79318


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 Etl4

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 Etl4.

No publications found that use IMPC mice or data for Etl4.

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MGI Allele Allele Type Produced
Etl4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Etl4em1(IMPC)Bay Exon Deletion Mice

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