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Gene: Tacc3 MGI:1341163

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
transforming, acidic coiled-coil containing protein 3
Synonyms:
Aint,  Arnt interacting protein

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Tacc3 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 Tacc3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Legg-Calvé-Perthes Disease
Joint dislocation, Delayed skeletal maturation, Cartilage destruction, Short stature, Avascular n... ORPHA:2380
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Ky... OMIM:277300
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Vertebral fusion, Spinal instability OMIM:251250
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Limit... ORPHA:93284
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Ollier Disease
Platyspondyly, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Osteoly... ORPHA:296
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate OMIM:600251
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Unilateral Ocular Duplication
Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Anophthalmia Plus Syndrome
Tessier cleft, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper lip, Cleft pa... ORPHA:1104
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Scoliosis, Claw hand deformity OMIM:605285
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Short stature, Abnormal sacrum morphology, Scoliosis, Fused cervical vert... ORPHA:1436
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft lip, Anterior encephalocele, Bilateral cleft palate OMIM:601357
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Death in infancy, Sacral dimple, Vertebral segmentation defect OMIM:618845
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Spondylocostal Dysostosis 5
Severe short stature, Butterfly vertebrae, Low back pain, Short neck, Disproportionate short-trun... OMIM:122600
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Hemiplegia/hemiparesis, Cervical C2/C3 vertebral fusion, Sho... ORPHA:2345
Familial Congenital Mirror Movements
Clumsiness, Poor fine motor coordination, Cerebral palsy, Fused cervical vertebrae ORPHA:238722
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis ORPHA:640
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Disproportionate short stature, Hypoplasia of the... ORPHA:485
Diaphanospondylodysostosis
Myelomeningocele, Short neck, Abnormal vertebral segmentation and fusion, Absent or minimally oss... ORPHA:66637
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increa... OMIM:256050
Supernumerary Nostril
Tessier cleft ORPHA:141096
Christian Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Short stature, Scoliosis, Prominent metopic ridge OMIM:309620
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Limitation of joint mobility, Joint dislocation, Calcification of cartilage, J... ORPHA:1416
Lethal Congenital Contracture Syndrome 8
Death in infancy, Neonatal death, Distal arthrogryposis, Vocal cord paralysis, Flexion contracture OMIM:616287
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... OMIM:618469
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Joint hypermobility, Short neck, Hemivertebrae, ... OMIM:615583
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Cervical spinal canal stenosis, Carpal synostosis, Elbow contracture, Elbow ... OMIM:178110
Keratoconus Posticus Circumscriptus
Short neck, Growth delay, Limited elbow extension and supination, Abnormal vertebral segmentation... OMIM:244600
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Ethmoidal encephalocele, Cleft palate OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Frequent falls, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, ... OMIM:606612
Lethal Kniest-Like Dysplasia
Platyspondyly, Abnormal cartilage morphology, Mesomelic/rhizomelic limb shortening, Hypoplastic v... ORPHA:2347
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Vertebral segmentation d... OMIM:613686
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Ring Chromosome 21 Syndrome
Spasticity, Thoracic hemivertebrae, Fused thoracic vertebrae, Short stature, Scoliosis ORPHA:1445
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Frontofacionasal Dysplasia
Tessier cleft, Cleft palate, Encephalocele, Non-midline cleft of the upper lip ORPHA:1791
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Limitation of joint mobility, Tracheo... OMIM:156550
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis OMIM:613710
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Cleft palate OMIM:239800
Lethal Congenital Contracture Syndrome 7
Paralysis, Distal arthrogryposis, Knee flexion contracture OMIM:616286
Oculomaxillofacial Dysostosis
Tessier cleft, Cleft palate ORPHA:1794
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis ORPHA:313892
Kbg Syndrome
Delayed skeletal maturation, Persistent open anterior fontanelle, Short neck, Short stature, Vert... ORPHA:2332
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Joint dislocation, Tracheomalacia, Neonatal death, Abnormal cartilage... OMIM:245650
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis OMIM:614198
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Intrauterine growth retardation, Increased susceptibility to fractures, Abnorm... OMIM:312150
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Fused cervical vertebrae, Ataxia, Upper motor neuron dysfuncti... ORPHA:530983
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Poor fine motor coordination, Hand tremor, Frequent falls, Postural tremor, Upper limb pain, Babi... ORPHA:99947
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Acromelic Frontonasal Dysostosis
Hypopituitarism, Encephalocele, Cryptorchidism, Submucous cleft soft palate, Midline facial cleft... OMIM:603671
Acrofacial Dysostosis, Weyers Type
Tessier cleft ORPHA:952
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte... ORPHA:2916
Wildervanck Syndrome
Short neck, Meningocele, Fused cervical vertebrae ORPHA:3456
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Cryptorchidism ORPHA:1647
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Short... OMIM:616549
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Mosaic Trisomy 9
Tessier cleft, Intrauterine growth retardation, Cryptorchidism, Spina bifida, Asplenia, Cleft pal... ORPHA:99776
Acrofacial Dysostosis, Catania Type
Tessier cleft, Spina bifida occulta, Intrauterine growth retardation, Cryptorchidism ORPHA:1786
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Intrauterine growth retardation, Increased susceptibility to fractures, Abnorm... OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Frequent falls, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Short Stature, Brussels Type
Short stature, Calcification of cartilage, Growth delay, Delayed epiphyseal ossification ORPHA:2867
Acute Peripheral Arterial Occlusion
Paralysis, Limb pain, Lower limb pain ORPHA:90064
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... ORPHA:90650
Cerebrooculonasal Syndrome
Tessier cleft ORPHA:66625
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Umbilical hernia, Knee dislocation, Shoulder dislocation, Generalized joint hypermobi... OMIM:618000
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Umbilical hernia, Joint hypermobility, Abnormality of t... ORPHA:915
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Intrauterine growth retardation, Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodact... OMIM:617333
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Short stature, Kyphosis, Fused cervical vertebrae ORPHA:2522
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Horner Syndrome, Congenital
Paralysis OMIM:143000
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Atelosteogenesis, Type I
Rhizomelia, Disproportionate short-limb short stature, Stillbirth, Elbow dislocation, Knee disloc... OMIM:108720
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Tracheomalacia, Elbow dislocati... OMIM:150250
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Interphalangeal joint contracture of finger, Partial fusion of carpals... OMIM:305620
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Myelopathy, Stiff neck, Gait ataxia, Cervical C2/C3 vertebral fusi... ORPHA:268882
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, L... OMIM:203500
Lateral Meningocele Syndrome
Umbilical hernia, Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormi... OMIM:130720
Shashi-Pena Syndrome
Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation... OMIM:617190
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... OMIM:265000
Variegate Porphyria
Paralysis OMIM:176200
Treacher-Collins Syndrome
Tessier cleft, Branchial fistula, Encephalocele, Cryptorchidism, Hypoplasia of the thymus, Thyroi... ORPHA:861
3Mc Syndrome 3
Tessier cleft, Cryptorchidism, Cleft palate OMIM:248340
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion OMIM:118100
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos... OMIM:272460
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... OMIM:151200
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short stature, Cervical C2/C3 vertebral fusion ORPHA:370010
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Koolen-De Vries Syndrome
Hip dislocation, Vertebral segmentation defect, Joint hypermobility, Short stature, Vertebral fus... ORPHA:96169
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae OMIM:619227
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Osteomyelitis, Joint swelling, Osteolysis, Fused cervical vertebrae OMIM:612852
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Supernumerary nipple ORPHA:1236
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Cleft palate OMIM:217100
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Mosaic Trisomy 20
Spinal canal stenosis, Intrauterine growth retardation, Vertebral segmentation defect, Limited pr... ORPHA:1724
Koolen-De Vries Syndrome
Hip dislocation, Intrauterine growth retardation, Spondylolisthesis, Joint hypermobility, Short s... OMIM:610443
Fanconi Anemia, Complementation Group I
Short stature, Short neck, Intrauterine growth retardation, Fused cervical vertebrae OMIM:609053
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Spasticity, Abnormal cartilage morphology, Hemiplegia, Hemiparesis, Ri... ORPHA:2396
Frontonasal Dysplasia 2
Intrauterine growth retardation, Tessier number 13 facial cleft, Encephalocele, Bilateral cryptor... OMIM:613451
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Frontometaphyseal Dysplasia
Joint contracture of the hand, Interphalangeal joint contracture of finger, Camptodactyly of fing... ORPHA:1826
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Abnor... ORPHA:3027
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft ORPHA:268249
Bartsocas-Papas Syndrome 1
Tessier cleft, Intrauterine growth retardation, Cleft palate, Bilateral cryptorchidism OMIM:263650
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Epiphyseal stippling, Abnormal cartilage matrix, Arthrogryposis ... ORPHA:86822
Congenital Myopathy 15
Camptodactyly, Osteopenia, Vocal cord paralysis, Joint hypermobility OMIM:620161
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Joint hypermobility, Short neck, Beaking of vertebral bodies, Verte... OMIM:213980
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Elbow flexion contracture, Joint stiffness, Decreased cervical spine flexion due to con... ORPHA:98863
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:271520
Microphthalmia, Syndromic 3
Postnatal growth retardation, Spastic diplegia, Butterfly vertebrae, Hemivertebrae, Short stature... OMIM:206900
Basal Cell Nevus Syndrome 1
Vertebral wedging, Kyphoscoliosis, Spina bifida, Hemivertebrae, Irregular ossification of hand bo... OMIM:109400
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Myelomeningocele, Camptodactyly... ORPHA:90652
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Delayed skeletal maturation, Umbilical hernia, Sacral dimple, Thoracic hemive... OMIM:268310
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Elbow flexion contracture, Joint stiffness, Decreased cervical spine flexion due to con... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Elbow flexion contracture, Joint stiffness, Decreased cervical spine flexion due to con... ORPHA:261
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Death in childhood, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia... OMIM:211530
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Sifrim-Hitz-Weiss Syndrome
Short stature, Wormian bones, Flat acetabular roof, Fused cervical vertebrae OMIM:617159
Osteogenesis Imperfecta
Tetraparesis, Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification, Ataxia, Dis... ORPHA:666
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Hemivertebrae, Short neck ORPHA:1780
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Genu varum, Patellar dislocation, Scoliosis, Hip dislocation, ... ORPHA:3320
Multiple Osteochondromas
Cervical myelopathy, Limitation of joint mobility, Abnormal cartilage morphology, Talipes valgus,... ORPHA:321
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Hemivertebrae, Vertebral fusion, Scoliosis ORPHA:377
Myhre Syndrome
Platyspondyly, Limitation of joint mobility, Intrauterine growth retardation, Joint stiffness, En... OMIM:139210
Andersen-Tawil Syndrome
Growth delay, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Joint hypermobility,... ORPHA:37553
Isolated Arrhinia
Tessier cleft ORPHA:1134
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Hyperkalemic Periodic Paralysis
Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Death in early adulthood, Death ... ORPHA:682
Moderate Hemophilia A
Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Cartilage ... ORPHA:169805
Renal Tubular Acidosis Iii
Periodic paralysis, Rickets, Osteomalacia OMIM:267200
Kbg Syndrome
Delayed skeletal maturation, Short neck, Short stature, Vertebral fusion, Vertebral arch anomaly,... OMIM:148050
Snakebite Envenomation
Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Pseudohypoaldosteronism Type 2
Short stature, Periodic paralysis, Growth delay ORPHA:757
Duane Retraction Syndrome
Blepharospasm, Abnormal form of the vertebral bodies, Short neck, Oculomotor apraxia, Camptodacty... ORPHA:233
Fraser Syndrome 1
Tessier cleft, Myelomeningocele, Encephalocele, Cryptorchidism, Cleft palate OMIM:219000
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Cleft palate ORPHA:306542
Japanese Encephalitis
Genu recurvatum, Pill-rolling tremor, Stiff neck, Elbow flexion contracture, Cogwheel rigidity, M... ORPHA:79139
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Thoracic kyphosis, Generalized j... ORPHA:508498
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis ORPHA:43
Apert Syndrome
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Coronal craniosynostosis, Synostosi... OMIM:101200
Duane-Radial Ray Syndrome
Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae OMIM:607323
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Aicardi Syndrome
Block vertebrae, Spasticity, Butterfly vertebrae, Hemiplegia/hemiparesis, Delayed puberty, Hypert... ORPHA:50
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... OMIM:272750
Alkaptonuria
Joint dislocation, Calcification of cartilage, Joint stiffness, Increased susceptibility to fract... ORPHA:56
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Back pain, Miscarriage ORPHA:319251
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Delayed skeletal maturation, Joint hypermobility, Short stature, Pe... OMIM:170390
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Myoclonus, Vocal cord paralysis, Hip subluxation, Scoliosis ORPHA:500144
Acro-Renal-Ocular Syndrome
Radial club hand, Postnatal growth retardation, Vertebral fusion, Vertebral segmentation defect ORPHA:959
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Machado-Joseph Disease Type 1
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276241
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia, Osteoporosis, Scoliosis OMIM:203700
Tick-Borne Encephalitis
Tongue fasciculations, Stiff neck, Incoordination, Limb pain, Speech apraxia, Tremor, Hyperkineti... ORPHA:297
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Camptodactyly of finger, Umbilical hernia, Death in infancy, Vertebra... ORPHA:373
Aicardi Syndrome
Block vertebrae, Postnatal growth retardation, Butterfly vertebrae, Spina bifida, Hemivertebrae, ... OMIM:304050
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Wolf-Hirschhorn Syndrome
Hip dislocation, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Intrauterine... OMIM:194190
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Platyspondyly, Hypoplasia of the odontoid process, Disproportionate short-limb short stature, Atl... OMIM:271665
Faciodigitogenital Syndrome, Autosomal Recessive
Camptodactyly, Vertebral fusion, Hyperextensible hand joints, Proportionate short stature OMIM:227330
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Hip contracture, Delayed puberty, Camptodactyly, D... OMIM:617137
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Chops Syndrome
Short stature, Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Patellar aplasia, Death in infancy, Carpal bone hypoplasia, Spina bifida, Genu... OMIM:274000
Glioblastoma
Paralysis ORPHA:360
Machado-Joseph Disease Type 3
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... ORPHA:276244
Poliomyelitis
Fasciculations, Stiff neck, Hyperkinetic movements, Paralysis, Paraparesis ORPHA:2912
Amyotrophic Lateral Sclerosis
Babinski sign, Spasticity, Paralysis, Fasciculations ORPHA:803
Keutel Syndrome
Short stature, Calcification of cartilage ORPHA:85202
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures, Paral... ORPHA:18
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Cryptorchidism, Congenital hepatic fibrosis ORPHA:93271
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, Growth delay OMIM:242100
Cardiospondylocarpofacial Syndrome
Delayed skeletal maturation, Fusion of middle ear ossicles, Carpal synostosis, Herniation of inte... OMIM:157800
Holoprosencephaly 1
Tessier cleft, Median cleft palate OMIM:236100
Adult-Onset Still Disease
Cartilage destruction, Joint swelling, Arthritis, Arthralgia/arthritis ORPHA:829
Robinow Syndrome
Umbilical hernia, Kyphoscoliosis, Hemivertebrae, Fused thoracic vertebrae, Short stature, Scoliosis ORPHA:97360
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Cranial hyperostosis, Osteopetrosis, Short stature, Diaphyseal scle... OMIM:259730
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Postnatal growth retardation, Intrauterine growth retardation, Contract... ORPHA:83617
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Spastic paraplegia, Growth delay, Limb ataxia, Paralysis, Oculomotor apra... ORPHA:2072
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Inhalational Botulism
Paralysis ORPHA:254504
Gitelman Syndrome
Chondrocalcinosis, Paralysis, Delayed puberty, Ataxia, Growth delay OMIM:263800
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, Wormian bones, Sh... ORPHA:444077
Reactive Arthritis
Osteomyelitis, Joint stiffness, Joint swelling, Cartilage destruction, Arthritis, Enthesitis ORPHA:29207
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Chromosome 16P13.3 Duplication Syndrome
Cervical C5/C6 vertebrae fusion, Short neck, Camptodactyly, Tracheobronchomalacia, Hip dislocatio... OMIM:613458
Schinzel-Giedion Syndrome
Spasticity, Sacrococcygeal teratoma, Umbilical hernia, Sclerosis of skull base, Kyphoscoliosis, S... ORPHA:798
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Congenital hip dislocation, Block vertebrae, Absence of the sacrum OMIM:306955
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia ORPHA:79102
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... ORPHA:51608
Gitelman Syndrome
Paralysis, Chondrocalcinosis, Gout, Delayed puberty ORPHA:358
African Trypanosomiasis
Involuntary movements, Myelopathy, Fasciculations, Abnormal central motor function, Tremor, Hemip... ORPHA:3385
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Tyrosinemia, Type I
Hypophosphatemic rickets, Growth delay, Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Osteopenia, Periodic hypokalemic paresis, Tremor, Delayed puberty, Osteoporosis ORPHA:91347
Craniofacial Microsomia 1
Block vertebrae, Occipital encephalocele, Genu valgum, Branchial anomaly, Hemivertebrae, Scoliosi... OMIM:164210
Holt-Oram Syndrome
Elbow dislocation, Limited elbow extension, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, ... OMIM:142900
Pineoblastoma
Paralysis ORPHA:251909

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 Tacc3

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 Tacc3.

No publications found that use IMPC mice or data for Tacc3.

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MGI Allele Allele Type Produced
Tacc3tm43478(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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