Gene Summary

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

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
increased startle reflex Etl4em1(IMPC)Bay HOM Early adult 1.62×10-17
decreased prepulse inhibition Etl4em1(IMPC)Bay HOM Early adult 5.83×10-06

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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
phenotypes
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Hip osteoarthritis, He... OMIM:604864
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Brachyolmia Type 2
Platyspondyly OMIM:613678
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Abnormality of the knee, Platyspondyly, Abnormality of the ankles ORPHA:163665
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Platyspondyly, Genu varum OMIM:608361
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Genu varum, Thorac... OMIM:609223
Spondylocamptodactyly
Cervical platyspondyly, Scoliosis, Camptodactyly of finger OMIM:600000
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Morquio Syndrome C
Platyspondyly OMIM:252300
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Platyspondyly, Genu varum, Flat acetabular roof, Vertebral... OMIM:617719
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly OMIM:616583
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... OMIM:271530
Pseudodiastrophic Dysplasia
Phalangeal dislocation, Platyspondyly, Scoliosis, Elbow dislocation ORPHA:85174
Dysspondyloenchondromatosis
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Osteoarthritis... ORPHA:85198
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Genu varum OMIM:617974
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly OMIM:271600
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Osteoarthritis of the elbow, Platyspondyly, Abnormality of the ankles, Protrus... ORPHA:2619
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Genu varum OMIM:618728
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Back pain, Short neck, ... OMIM:271630
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly ORPHA:93283
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Intervertebral disc degeneration, Abno... ORPHA:93311
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Genu valgum, Platyspondyly, Irregularity of vertebral bodies OMIM:609324
Spondylosis, Cervical
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypoplastic acetabulae OMIM:230650
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis OMIM:612847
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly ORPHA:168555
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... OMIM:184100
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... OMIM:609813
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Anterior radial head dislocation, Platyspondyly, Biconca... OMIM:610967
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process ORPHA:85172
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Osteoporosis of vertebrae, Multiple small vertebral fractures OMIM:156510
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumbar hyperlo... ORPHA:99642
Pyle Disease
Genu valgum, Platyspondyly, Scoliosis, Limited elbow extension OMIM:265900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple, ... ORPHA:2064
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Elbow flexion contracture, Knee flexion ... OMIM:259450
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... OMIM:203500
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increased intervertebral space, Horizont... OMIM:256050
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Short neck, Vertebral clefting OMIM:608681
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregular vertebral endplates, Joint swelling, Beaking of vertebral bodies, Joint contracture of ... ORPHA:1159
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Sillence Syndrome
Back pain, Intervertebral disc degeneration, Platyspondyly, Scoliosis, Abnormal vertebral morphol... ORPHA:3168
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Knee flexion contracture OMIM:313420
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Platyspondyly, Abnormal intervertebral disk morphology ORPHA:1345
Progressive Pseudorheumatoid Dysplasia
Joint swelling, Kyphoscoliosis, Joint contracture of the hand, Osteoarthritis, Platyspondyly, Enl... OMIM:208230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Short neck, Platyspondyl... OMIM:618395
Spondylometaphyseal Dysplasia, Type A4
Irregular patellae, Flat acetabular roof, Platyspondyly, Ovoid vertebral bodies OMIM:609052
Microspherophakia-Metaphyseal Dysplasia
Spinal stenosis with reduced interpedicular distance, Flattened moderately deformed vertebrae OMIM:157151
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... OMIM:264180
Pseudoachondroplasia
Beaking of vertebral bodies, Lumbar hyperlordosis, Irregular carpal bones, Osteoarthritis, Platys... ORPHA:750
Dental Anomalies And Short Stature
Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb... OMIM:601216
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Scoliosis, Li... ORPHA:93359
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis, Wormian bones OMIM:259440
Spondyloepimetaphyseal Dysplasia, Irapa Type
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Limited elbow extension,... OMIM:271650
Ollier Disease
Multiple enchondromatosis, Platyspondyly, Abnormal cartilage morphology ORPHA:296
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Abnormal ca... ORPHA:93284
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis, Irregular acetabul... ORPHA:93316
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Pterygium ORPHA:2771
Brachyolmia Type 3
Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Loeys-Dietz Syndrome 6
Intervertebral disc degeneration, Scoliosis, Knee osteoarthritis, Hip osteoarthritis OMIM:619656
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Greenberg Dysplasia
Platyspondyly, Abnormal form of the vertebral bodies, Abnormally ossified vertebrae ORPHA:1426
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Platyspondyly, Wormian bones OMIM:601356
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Scoliosis OMIM:602271
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Biconcave vertebral bodies, Abnormal lumbar spine morphology,... ORPHA:166011
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly ORPHA:71267
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Delayed ossification of carpal bones, Platyspondyly, Scoliosis, ... OMIM:184252
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly OMIM:619598
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Platyspondyly, Elbow flexion contracture OMIM:601561
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Platyspondyly, Scoliosis OMIM:234250
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis OMIM:615220
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Genu valgum, Platyspondyly, Joint contracture of the 5th finger OMIM:601668
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Platyspondyly, Wormian bones OMIM:619638
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Genu valgum, Platyspondyly ORPHA:250984
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... OMIM:609616
Bruck Syndrome 2
Platyspondyly, Wormian bones, Elbow flexion contracture, Knee flexion contracture, Pterygium OMIM:609220
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Scoliosis, Vertebral compression fracture OMIM:616507
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Hypoplastic acetabulae, Atlantoaxial instability, Platyspo... OMIM:607326
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Platyspondyly, Scoliosis, Wormian bones OMIM:614856
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormality of the vertebral endplates, Platyspondyly, Limited elbow extension, Ovoid vertebral b... ORPHA:1856
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Short neck, Platyspondyly, Genu v... OMIM:602557
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Genu valgum, Hypoplasia of the odonto... OMIM:184250
Metatropic Dysplasia
Enlarged joints, Kyphosis, Kyphoscoliosis, Relatively short spine, Platyspondyly, Scoliosis, Long... OMIM:156530
Stickler Syndrome Type 1
Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology ORPHA:90653
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Distal tibial bowing, Platyspondyly, Scolios... OMIM:156500
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Beaking of vertebral bodies, Lumbar platyspondyly, Thoracic platy... OMIM:618961
Patterson Pseudoleprechaunism Syndrome
Joint swelling, Kyphoscoliosis, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, Irregular ... OMIM:169170
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical platyspondyly, Platyspon... ORPHA:93314
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervical instability, Platys... ORPHA:93346
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Platyspondyly, Short neck, Anisospondyly, Thoracic kyphosis, Ovoid verteb... ORPHA:163649
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Genu valgum, Abnormal joint morphology... ORPHA:93351
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Platyspondyly, Short neck, Cervical kyphosis OMIM:245160
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Scoliosis OMIM:126550
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Abnormal cartilage matrix, Platyspondyly, S... ORPHA:2347
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Narrow vertebral interpedicular distance, Short neck, Platyspondyly, S... ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Platyspondyly, Irregular sclerotic endplates, Limited elbow extension, Genu varum... OMIM:602111
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Short neck OMIM:618958
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Kyphosis, Kyphoscoliosis, Platyspondyly, Scoliosis, Genu varum, Genu valgum, Abnormality of the c... ORPHA:93360
Pseudoachondroplasia
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Irregular carpal bones, Genu recurva... OMIM:177170
Geroderma Osteodysplastica
Beaking of vertebral bodies, Platyspondyly, Biconcave vertebral bodies, Scoliosis, Abnormal form ... ORPHA:2078
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Chondroectodermal Dysplasia With Night Blindness
Abnormality of the knee, Abnormal patella morphology, Platyspondyly ORPHA:319195
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Advanced ossification of carpal bones, Kyphoscoliosis, Platyspondyly, Hip disl... OMIM:615349
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Platyspondyly, Limited elbow extension, Ovoid vertebral bodies, Flat acetab... OMIM:608728
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly ORPHA:157965
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Severe platyspondyly, Platyspondyly, Scoliosis, Ovoid vertebral bodies OMIM:608940
Mucopolysaccharidosis, Type Iva
Kyphosis, Large elbow, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoliosis... OMIM:253000
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Scoliosis, Wormian bones OMIM:619131
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Anterior vertebral fusion, Platyspondyly, Short n... ORPHA:485
Dyggve-Melchior-Clausen Syndrome, X-Linked
Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Short neck, Scoliosis, Carpal bone hypop... OMIM:304950
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hyperlordosis, Irregular acetabular roof, ... OMIM:619698
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Short neck ORPHA:93267
Odontochondrodysplasia 1
Genu recurvatum, Delayed ossification of carpal bones, Biconvex vertebral bodies, Platyspondyly, ... OMIM:184260
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Short neck, Scoliosis, L... OMIM:183900
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral... OMIM:618641
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Lumbar hyperlordosis, Abnormally ossified vertebrae, Osteoarthritis, Platyspondy... ORPHA:1427
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Severe platyspondyly, Short neck, Flat acetabular roof, Disc-like vertebral bodies OMIM:151210
Fibrochondrogenesis 2
Platyspondyly OMIM:614524
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Premature oste... OMIM:215150
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Osteoarthritis, Platyspondyly, Scoliosi... OMIM:108300
Odontochondrodysplasia
Platyspondyly, Scoliosis ORPHA:166272
Kniest Dysplasia
Enlarged joints, Platyspondyly, Short neck, Genu varum, Lumbar kyphoscoliosis, Abnormal cartilage... OMIM:156550
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Hypoplastic acetabulae, Broad carpal bones, Atlantoaxial instability... ORPHA:239
Mucopolysaccharidosis, Type Ivb
Kyphosis, Platyspondyly, Scoliosis, Ulnar deviation of the wrist, Hyperlordosis, Genu valgum, Ovo... OMIM:253010
Thanatophoric Dysplasia, Type Ii
Platyspondyly OMIM:187601
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Joint contracture of the h... OMIM:612350
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Genu varum, Abnormal vertebra... ORPHA:174
Cole-Carpenter Syndrome 2
Kyphosis, Coronal craniosynostosis, Platyspondyly, Wormian bones, Lambdoidal craniosynostosis OMIM:616294
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Cervic... ORPHA:94068
Smith-Mccort Dysplasia 2
Short neck, Genu valgum, Platyspondyly, Hypoplasia of the odontoid process OMIM:615222
Dysosteosclerosis
Irregular vertebral endplates, Platyspondyly, Hypoplastic vertebral bodies ORPHA:1782
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Lumbar hyperlordosis, Platyspondyly, Wide anterior fontanel OMIM:616482
Spondylo-Ocular Syndrome
Platyspondyly, Thoracic kyphosis, Short neck, Abnormal intervertebral disk morphology ORPHA:85194
Czech Dysplasia
Irregular vertebral endplates, Platyspondyly, Scoliosis, Thoracic kyphosis, Intervertebral space ... OMIM:609162
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Delayed ossification of carpal bones, Atlantoaxial dislocation, Platyspondy... OMIM:607095
Lowry-Wood Syndrome
Dislocated radial head, Platyspondyly, Patellar dislocation, Elbow dislocation ORPHA:1824
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Biconc... OMIM:231070
Desbuquois Dysplasia 1
Kyphosis, Advanced ossification of carpal bones, Joint dislocation, Osteoarthritis, Platyspondyly... OMIM:251450
Metaphyseal Acroscyphodysplasia
Craniosynostosis, Platyspondyly, Biconcave vertebral bodies, Scoliosis, Genu varum, Hypoplasia of... OMIM:250215
Saul-Wilson Syndrome
Wide anterior fontanel, Platyspondyly OMIM:618150
Axial Spondylometaphyseal Dysplasia
Thoracic scoliosis, Delayed ossification of carpal bones, Platyspondyly, Scoliosis, Aplasia/Hypop... ORPHA:168549
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Wide anterior fontanel, Platyspondyly, Thoracolumbar kyphoscoliosis,... OMIM:618853
Cantu Syndrome
Platyspondyly, Short neck, Cuboid-shaped vertebral bodies, Ovoid vertebral bodies OMIM:239850
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Platyspondyly, Short neck, Scoliosis, Hyperlo... ORPHA:582
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Lumbar hyperlordosis, Joint contracture of the hand, Platyspondyly, Congenital hi... OMIM:255800
Thanatophoric Dysplasia
Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology ORPHA:2655
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Platyspondyly, S... OMIM:269250
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Lumbar hyperlordosis, Vertebral fusion, Biconvex vertebral bodies, Platyspondyly, Short neck, Bic... ORPHA:93315
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Irregular carpal bones, Platyspondyly, Carpal bone hypoplasia, Hyp... OMIM:226980
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Thoracolumbar scoliosis, Short neck, Craniosynostosis OMIM:616723
Hypophosphatasia, Infantile
Widely patent fontanelles and sutures, Vertebral clefting, Craniosynostosis, Platyspondyly, Unoss... OMIM:241500
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thoracolumba... OMIM:230600
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones OMIM:166220
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly OMIM:300863
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Carpal bone hypoplasia, Genu valgum OMIM:184253
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Severe platyspondyly, Short neck, Wormian bones, Dysplastic sacrum OMIM:613320
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Wormian bones OMIM:166210
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Short neck, Wormian bones, Thoracic kyphosis, Hypoplasia of the odontoid process OMIM:300232
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Genu varum, Abnormal carpal morphology ORPHA:85166
Hall-Riggs Syndrome
Platyspondyly, Scoliosis ORPHA:2107
Mucopolysaccharidosis, Type Vii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoliosis, Anterior be... OMIM:253220
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly OMIM:618476
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Wormian bones, Vertebral compression fracture OMIM:616229
Atelosteogenesis Type I
Joint dislocation, Platyspondyly, Scoliosis, Absent or minimally ossified vertebral bodies, Coron... ORPHA:1190
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Lumbar hyperlordosis, Delayed ossification of carpal bones, Platyspondyly, Biconc... OMIM:271510
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Kyphoscoliosis, Delayed ossification of carpal bones, Cervical instabilit... OMIM:617425
Dyggve-Melchior-Clausen Disease
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis... OMIM:223800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Desbuquois Dysplasia 2
Advanced ossification of carpal bones, Lumbar hyperlordosis, Knee dislocation, Platyspondyly, Sho... OMIM:615777
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly ORPHA:163966
Osteogenesis Imperfecta, Type Viii
Kyphosis, Wide anterior fontanel, Platyspondyly, Scoliosis, Wormian bones, Vertebral compression ... OMIM:610915
Spondyloperipheral Dysplasia
Acetabular spurs, Kyphosis, Platyspondyly, Limited elbow extension, Flat acetabular roof OMIM:271700
Thanatophoric Dysplasia, Type I
Platyspondyly, Severe platyspondyly, Short neck OMIM:187600
Aneurysm-Osteoarthritis Syndrome
Spondylolisthesis, Osteoarthritis of the small joints of the hand, Intervertebral disc degenerati... ORPHA:284984
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Craniosynostosis, Platyspondyly, Short neck, Limited... ORPHA:457395
Osteogenesis Imperfecta, Type X
Genu valgum, Platyspondyly, Scoliosis, Vertebral compression fracture OMIM:613848
Kniest-Like Dysplasia, Lethal
Wide anterior fontanel, Hypoplastic vertebral bodies, Platyspondyly, Short neck, Coronal cleft ve... OMIM:245190
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Platyspondyly, Short neck, Carpal bone hypoplasia, Cubit... OMIM:611717
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Kyphosis, Joint dislocation, Platyspondyly, Limited elbow extension, Hyperlordosis, Thoracolumbar... OMIM:618019
Thanatophoric Dysplasia Type 1
Kyphosis, Wide anterior fontanel, Platyspondyly, Abnormal sacroiliac joint morphology ORPHA:1860
Acromesomelic Dysplasia 4
Beaking of vertebral bodies, Lumbar hyperlordosis, Thoracic scoliosis, Platyspondyly, Genu varum,... OMIM:619636
Fibrochondrogenesis 1
Widely patent coronal suture, Widely patent sagittal suture, Wide anterior fontanel, Joint contra... OMIM:228520
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short neck, Wormian bones OMIM:616897
CantĂș Syndrome
Platyspondyly, Short neck, Cuboid-shaped vertebral bodies, Ovoid vertebral bodies ORPHA:1517
Spondyloenchondrodysplasia With Immune Dysregulation
Irregular vertebral endplates, Joint swelling, Kyphoscoliosis, Lumbar hyperlordosis, Increased in... OMIM:607944
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Platyspondyly, Shallow acetabular fossae, Short neck, Thoracic kyphosis, Ov... OMIM:242900
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Vertebral wedging, Platyspondyly OMIM:617866
Dysosteosclerosis
Irregular vertebral endplates, Hypoplastic vertebral bodies, Increased intervertebral space, Plat... OMIM:224300
Trisomy 20P
Vertebral segmentation defect, Kyphosis, Camptodactyly of finger, Platyspondyly, Short neck, Scol... ORPHA:261318
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 3rd finger, Platyspondyly, Scoliosis, El... OMIM:612394
Gm1 Gangliosidosis
Kyphosis, Camptodactyly of finger, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodie... ORPHA:354
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Large joint dislocations, Beaking of vertebral bodies, Kyphoscoliosis, Atlantoaxial dislocation, ... ORPHA:536467
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Platyspondyly, Shallow acetabular fossae, Short neck, Ovoid vertebral bodies ORPHA:1830
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Dislocated radial head, Knee dislocation, Craniosynostosis, Platyspondyly, Short neck, Scoliosis,... OMIM:245600
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Loeys-Dietz Syndrome 3
Spondylolisthesis, Craniosynostosis, Intervertebral disc degeneration, Osteoarthritis, Scoliosis,... OMIM:613795
Osteogenesis Imperfecta, Type I
Biconcave flattened vertebrae, Wormian bones OMIM:166200
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Atelosteogenesis, Type I
Knee dislocation, Short neck, Fused cervical vertebrae, Multinucleated giant chondrocytes in epip... OMIM:108720
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Craniosynostosis, Cervical instab... ORPHA:508533
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Large knee, Platyspondyly, Scoliosis OMIM:619269
Opsismodysplasia
Hypoplastic vertebral bodies, Short neck, Scoliosis, Severe platyspondyly, Flat acetabular roof, ... OMIM:258480
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular vertebral endplates, Platyspondyly, Short neck, Carpal bone hypoplasia, Posterior scall... OMIM:610442
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Platyspondyly, Acetabular dysplasia, Hypoplastic vertebral bo... ORPHA:79255
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Scoliosis, Ovoid vertebral bodies ORPHA:85167
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Kyphosis, Platyspondyly, Arthritis ORPHA:1855
Atypical Werner Syndrome
Intervertebral disc degeneration, Chondrocalcinosis ORPHA:79474
Otopalatodigital Syndrome, Type Ii
Wide anterior fontanel, Spondylolysis, Congenital hip dislocation, Platyspondyly, Wormian bones, ... OMIM:304120
Digeorge Syndrome
Intervertebral disc degeneration, Pilonidal sinus, Patellar dislocation, Scoliosis OMIM:188400
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Limited elbow extension, Genu valgum, Persistent open anterior fontanell... OMIM:304150
Spondylodysplastic Ehlers-Danlos Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Coronal cleft vertebrae, Joint dislocation, Subluxat... ORPHA:536471
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Platyspondyly OMIM:259770
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Irregular vertebral endplates, Dislocated radial head, Advanced ossification of carpal bones, Kyp... OMIM:271640
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Atlantoaxial instability, Platyspondyly, Scoliosis, Abnormal calcification of the carpal bones, P... OMIM:271665
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Schwartz-Jampel Syndrome
Kyphosis, Spinal rigidity, Abnormally straight spine, Abnormally ossified vertebrae, Short neck, ... ORPHA:800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Joint dislocation, Congenital hip dislocation, Platyspondyly, Progressive congeni... OMIM:225400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Marshall Syndrome
Platyspondyly, Knee osteoarthritis OMIM:154780
Kyphomelic Dysplasia
Pterygium, Flat acetabular roof, Platyspondyly OMIM:211350
Greenberg Dysplasia
Hypoplastic vertebral bodies, Horizontal sacrum, Costal cartilage calcification, Platyspondyly, A... OMIM:215140
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spondyloepimetaphyseal Dysplasia, X-Linked
Kyphosis, Lumbar hyperlordosis, Delayed ossification of carpal bones, Anterior wedging of T11, Pl... OMIM:300106
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Osteoglophonic Dysplasia
Platyspondyly, Short neck, Craniosynostosis OMIM:166250
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly ORPHA:93317
Lowe Oculocerebrorenal Syndrome
Kyphosis, Joint contracture of the hand, Camptodactyly of finger, Platyspondyly, Scoliosis, Genu ... OMIM:309000
Sponastrime Dysplasia
Kyphoscoliosis, Lumbar hyperlordosis, Abnormality of the vertebral column, Platyspondyly, Biconca... ORPHA:93357
Stickler Syndrome
Spinal canal stenosis, Kyphosis, Joint dislocation, Osteoarthritis, Platyspondyly, Scoliosis, Abn... ORPHA:828
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Synostosis of joints ORPHA:50945
Aspartylglucosaminuria
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Spondylolysis, Platyspondyly, Scoliosis OMIM:208400
Occipital Horn Syndrome
Kyphosis, Delayed cranial suture closure, Platyspondyly, Scoliosis, Synostosis of joints, Abnorma... ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Absent knee epiphyses, Platyspondyly, Short neck, Cleft vertebral arch, Elbow flexion contracture... OMIM:210710
Alpha-Mannosidosis, Infantile Form
Craniosynostosis, Platyspondyly, Short neck, Talipes valgus, Genu valgum ORPHA:309282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly OMIM:102700
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Myhre Syndrome
Platyspondyly ORPHA:2588
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly OMIM:263520
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Increased intervertebral space OMIM:619727
Myhre Syndrome
Platyspondyly, Enlarged vertebral pedicles, Short neck, Vertebral fusion OMIM:139210
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Flat acetabular roof, Short neck OMIM:250220
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Irregular vertebral endplates, Broad carpal bones, Platyspondyly, Short neck, Genu varum, Lumbar ... ORPHA:99646
Sandhoff Disease
Exaggerated startle response OMIM:268800
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Kyphosis, Platyspondyly, Scoliosis, Arthritis, Genu valgum, Hip dislocation, Pate... ORPHA:534
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Fontaine Progeroid Syndrome
Wide anterior fontanel, Craniosynostosis, Coronal craniosynostosis, Platyspondyly, Scoliosis OMIM:612289
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Camptodactyly of finger, Abnormality of the vertebral column, Platyspondyly, Abnormal v... ORPHA:2273
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
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Pmm2-Cdg
Kyphoscoliosis, Platyspondyly ORPHA:79318

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 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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