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

IMPC Data Collections

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

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.

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
Avascular necrosis, Joint dislocation, Short stature, Cartilage destruction, Delayed skeletal mat... ORPHA:2380
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Severe short stature, Short stature, He... OMIM:277300
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Short stature OMIM:251250
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Disproporti... ORPHA:93284
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Myelomeningocele, Short stature, Hemivertebrae, Spina bifida occul... OMIM:613686
Ollier Disease
Bone pain, Joint stiffness, Platyspondyly, Abnormal cartilage morphology, Osteolysis, Multiple en... ORPHA:296
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Choreoathetosis, Vertebral fusion OMIM:221950
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis OMIM:605285
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivert... ORPHA:1436
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Triopia
Encephalocele, Midline facial cleft ORPHA:3374
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increased intervertebral space, Horizont... OMIM:256050
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Hemiplegia/hemiparesis, Abnormal vertebral segmentation and fusi... ORPHA:2345
Supernumerary Nostril
Facial cleft ORPHA:141096
Spondylocostal Dysostosis 5
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Scoliosis, Disproportionate... OMIM:122600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Death in infancy, Sacral dimple OMIM:618845
Familial Congenital Mirror Movements
Fused cervical vertebrae, Cerebral palsy, Clumsiness, Poor fine motor coordination ORPHA:238722
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... OMIM:610017
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Flexion contracture of f... ORPHA:485
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short stature, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae OMIM:309620
Familial Calcium Pyrophosphate Deposition
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Calcification of... ORPHA:1416
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Short... OMIM:178110
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis ORPHA:640
Verheij Syndrome
Short stature, Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Growth delay, Vertebral fusion OMIM:615583
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Myelomeningocele, Absent or minimally oss... ORPHA:66637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Frequent falls, Vertebral fusion, Achilles tendon contracture OMIM:606612
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Abnormal cartilage matrix, Platyspondyly, S... ORPHA:2347
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fuse... OMIM:618469
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Growth delay, Short neck, Limited elbow extension and... OMIM:244600
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Facial cleft, Anterior encephalocele OMIM:601357
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis OMIM:606777
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Asymmetric short stature OMIM:108450
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, ... ORPHA:313892
Ring Chromosome 21 Syndrome
Short stature, Fused thoracic vertebrae, Scoliosis, Spasticity, Thoracic hemivertebrae ORPHA:1445
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis OMIM:214300
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Platyspondyly, Short neck, Biconcave vertebral bodies, Disproportionate short-trunk short stature... ORPHA:93315
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft ORPHA:1104
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Mild postnatal growth retardation, Scoliosis, Fused cervical vertebrae,... ORPHA:530983
Kniest Dysplasia
Enlarged joints, Hip contracture, Delayed epiphyseal ossification, Tracheomalacia, Platyspondyly,... OMIM:156550
Lethal Congenital Contracture Syndrome 7
Knee flexion contracture, Paralysis, Arthrogryposis multiplex congenita OMIM:616286
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft, Ethmoidal encephalocele OMIM:607597
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Abnormal cartilage matrix, Tracheomalacia, Neonatal death, Multiple joint disl... OMIM:245650
Kbg Syndrome
Delayed skeletal maturation, Short stature, Short neck, Scoliosis, Thoracic kyphosis, Persistent ... ORPHA:2332
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Short stature, Hemivertebrae, Scoliosis, Abnormal form of... ORPHA:2916
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:312150
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Wildervanck Syndrome
Fused cervical vertebrae, Short neck, Meningocele ORPHA:3456
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:253290
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short stature, Short neck, Thoracolumbar sc... OMIM:616549
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in muscle tissue, Ectopic ... OMIM:135100
Short Stature, Brussels Type
Calcification of cartilage, Growth delay, Delayed epiphyseal ossification, Short stature ORPHA:2867
Oculomaxillofacial Dysostosis
Facial cleft ORPHA:1794
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Intrauterine growth retardation, Facial cleft, Spina bifida occulta ORPHA:1786
Mosaic Trisomy 9
Abnormal liver lobulation, Facial cleft, Cryptorchidism, Spina bifida, Intrauterine growth retard... ORPHA:99776
Frontofacionasal Dysplasia
Encephalocele, Facial cleft ORPHA:1791
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Acute Peripheral Arterial Occlusion
Limb pain, Paralysis, Lower limb pain ORPHA:90064
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Frequent falls, Vertebral fusion, Achilles tendon contracture OMIM:607155
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short stature, Short neck, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Aarskog-Scott Syndrome
Genu recurvatum, Short stature, Abnormal vertebral segmentation and fusion, Camptodactyly of fing... ORPHA:915
Gorlin Syndrome
Hemivertebrae, Vertebral wedging, Scoliosis, Vertebral fusion ORPHA:377
Oculocerebrocutaneous Syndrome
Cryptorchidism, Facial cleft ORPHA:1647
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis OMIM:606183
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... OMIM:203500
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Short stature, Short neck, Biconcave vertebral bodies, Scolios... OMIM:130720
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Absent ossification of cervical vertebral bodies, Neon... OMIM:601376
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Horner Syndrome, Congenital
Paralysis OMIM:143000
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Knee dislocation, Short neck, Neonatal death, Fused ce... OMIM:108720
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Progressive cerebellar ataxia, Babinski sign, Scoliosis, Myelopa... ORPHA:268882
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Craniosynostosis, Inc... OMIM:305620
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Umbilical hernia, Pterygium, Anterior clefting of verteb... OMIM:265000
Short Rib-Polydactyly Syndrome
Hepatic cysts, Hepatic fibrosis, Facial cleft, Intrauterine growth retardation, Abnormality of th... ORPHA:1505
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Hemivertebrae, Tarsal synost... OMIM:263540
Variegate Porphyria
Paralysis OMIM:176200
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion OMIM:118100
Treacher-Collins Syndrome
Cryptorchidism, Hypoplasia of the thymus, Branchial fistula, Thyroid hypoplasia, Facial cleft, En... ORPHA:861
Juvenile Idiopathic Arthritis
Joint stiffness, Joint swelling, Joint dislocation, Cartilage destruction, Arthritis, Abnormal jo... ORPHA:92
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short stature ORPHA:370010
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Short stature, Enlarged interp... OMIM:151200
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, Delayed skeletal maturation, C2-C3 subluxation,... OMIM:272460
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... ORPHA:3027
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... OMIM:618986
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Short stature, Scoliosis, Hip dislocation, Vertebral fus... ORPHA:96169
3Mc Syndrome 3
Cryptorchidism, Facial cleft OMIM:248340
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis OMIM:612852
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Short stature, Shoulder dislocation, Genu varum, Radioulnar synostosis... OMIM:171480
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta, Short stature OMIM:619227
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck, Intrauterine growth retardation, Short stature OMIM:609053
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft, Supernumerary nipple ORPHA:1236
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Hypertonia, Craniofacial hyperostosis, Bone cyst, Rigidity, Hemiparesis, Abnormal car... ORPHA:2396
Mosaic Trisomy 20
Spinal canal stenosis, Kyphosis, Vertebral segmentation defect, Limited pronation/supination of f... ORPHA:1724
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Motor stereotypy, Lumbar scoliosis OMIM:617796
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Abnormal bone structure, Arthrogryposis multiplex congenita, Intrauter... ORPHA:86822
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Intrauterine growth retardation, Tessier number 13 facial cleft, Enceph... OMIM:613451
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Short stature, Prominent metopic ridge, Scoliosis, Joint hypermobili... OMIM:610443
Frontometaphyseal Dysplasia
Dislocated radial head, Sclerosis of skull base, Joint contracture of the hand, Limitation of mov... ORPHA:1826
Robinow Syndrome, Autosomal Recessive 1
Delayed skeletal maturation, Dislocated radial head, Wide anterior fontanel, Hypoplastic sacrum, ... OMIM:268310
Alkaptonuria
Intervertebral disk calcification, Joint stiffness, Joint swelling, Joint dislocation, Reduced bo... ORPHA:56
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis, Block vertebrae, Vertebral fusion OMIM:271520
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Intrauterine growth retardation, Facial cleft OMIM:263650
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Craniosynostosis, Intention tremor, Hemivertebrae, Hyperextensibilit... OMIM:213980
Microphthalmia, Syndromic 3
Butterfly vertebrae, Short stature, Hemivertebrae, Spastic diplegia, Vertebral hypoplasia, Spasti... OMIM:206900
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis ORPHA:681
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Otopalatodigital Syndrome Type 2
Myelomeningocele, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentat... ORPHA:90652
Basal Cell Nevus Syndrome
Kyphoscoliosis, Hemivertebrae, Vertebral fusion, Scoliosis, Irregular ossification of hand bones,... OMIM:109400
Constricting Bands, Congenital
Encephalocele, Facial cleft OMIM:217100
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck, Intrauterine growth retardation ORPHA:1780
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones, Short stature OMIM:617159
Multiple Osteochondromas
Abnormal carpal morphology, Short stature, Talipes valgus, Arthritis, Neuropathic spinal arthropa... ORPHA:321
Isolated Arrhinia
Facial cleft ORPHA:1134
Osteogenesis Imperfecta
Ataxia, Osteopenia, Biconcave vertebral bodies, Rhizomelia, Genu valgum, Umbilical hernia, Abnorm... ORPHA:666
Mycophenolate Mofetil Embryopathy
Facial cleft ORPHA:268249
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Hip dislocati... ORPHA:3320
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Thoracic scoliosis, Generalized joint laxity, Short stature, Shoulder subluxati... ORPHA:508498
Myhre Syndrome
Joint stiffness, Ataxia, Short stature, Platyspondyly, Enlarged vertebral pedicles, Short neck, B... OMIM:139210
Moderate Hemophilia A
Joint hemorrhage, Hip contracture, Joint swelling, Limitation of joint mobility, Cartilage destru... ORPHA:169805
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Kbg Syndrome
Delayed skeletal maturation, Short stature, Short neck, Vertebral arch anomaly, Thoracic kyphosis... OMIM:148050
Andersen-Tawil Syndrome
Short stature, Periodic paralysis, Periodic hypokalemic paresis, Scoliosis, Joint laxity, Growth ... ORPHA:37553
Renal Tubular Acidosis Iii
Periodic paralysis, Osteomalacia, Rickets OMIM:267200
Duane Retraction Syndrome
Blepharospasm, Abnormal vertebral segmentation and fusion, Short neck, Abnormal form of the verte... ORPHA:233
Hyperkalemic Periodic Paralysis
Hypertonia, Flexion contracture, Cerebral palsy, Death in early adulthood, Death in infancy, Fasc... ORPHA:682
Pseudohypoaldosteronism Type 2
Periodic paralysis, Growth delay, Short stature ORPHA:757
Fanconi Anemia, Complementation Group C
Flexion contracture, Short stature, Prolonged G2 phase of cell cycle, Intrauterine growth retarda... OMIM:227645
Snakebite Envenomation
Pseudobulbar paralysis, Paralysis, Respiratory paralysis ORPHA:449285
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Japanese Encephalitis
Hypertonia, Genu recurvatum, Opisthotonus, Respiratory paralysis, Pill-rolling tremor, Myoclonus,... ORPHA:79139
Fraser Syndrome 1
Myelomeningocele, Cryptorchidism, Facial cleft, Encephalocele OMIM:219000
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Spina bifida occulta OMIM:607323
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Apert Syndrome
Delayed epiphyseal ossification, Humeroradial synostosis, Craniosynostosis, Coronal craniosynosto... OMIM:101200
Aicardi Syndrome
Hypertonia, Butterfly vertebrae, Hemiplegia/hemiparesis, Scoliosis, Spasticity, Delayed puberty, ... ORPHA:50
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... OMIM:272750
Adult-Onset Still Disease
Joint swelling, Cartilage destruction, Arthritis ORPHA:829
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Progressive spastic paraparesis, Paralysis, Incoordination ORPHA:43
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Facial cleft ORPHA:306542
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Myoclonus, Paralysis ORPHA:83601
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Radial club hand, Vertebral fusion, Postnatal growth retardation ORPHA:959
Wolf-Hirschhorn Syndrome
Motor stereotypy, Kyphosis, Delayed skeletal maturation, Abnormal sternal ossification, Short sta... OMIM:194190
Andersen Cardiodysrhythmic Periodic Paralysis
Short stature, Periodic paralysis, Periodic hypokalemic paresis, Scoliosis, Joint laxity, Delayed... OMIM:170390
Rift Valley Fever
Paraparesis, Miscarriage, Back pain, Decerebrate rigidity, Hemiparesis, Paralysis ORPHA:319251
Aicardi Syndrome
Butterfly vertebrae, Hemivertebrae, Scoliosis, Block vertebrae, Postnatal growth retardation, Spi... OMIM:304050
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Accelerated skeletal maturation, Camptodactyly of finger, Short ne... ORPHA:373
Tick-Borne Encephalitis
Back pain, Hyperkinetic movements, Limb pain, Tremor, Speech apraxia, Paralysis, Incoordination, ... ORPHA:297
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Faciodigitogenital Syndrome, Autosomal Recessive
Proportionate short stature, Vertebral fusion, Hyperextensible hand joints, Camptodactyly OMIM:227330
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Short stature, Genu varum, Carpal bone hypoplasia, Fused cervical vertebrae, P... OMIM:274000
Chops Syndrome
Cervical C2/C3 vertebral fusion, Short stature, Tracheomalacia OMIM:616368
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Frontometaphyseal Dysplasia 2
Hip contracture, Dislocated radial head, Congenital hip dislocation, Scoliosis, Camptodactyly, Fu... OMIM:617137
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Keutel Syndrome
Calcification of cartilage, Short stature ORPHA:85202
Glioblastoma
Paralysis ORPHA:360
Poliomyelitis
Paraparesis, Hyperkinetic movements, Paralysis, Fasciculations, Stiff neck ORPHA:2912
Distal Renal Tubular Acidosis
Reduced bone mineral density, Short stature, Osteomalacia, Paralysis, Increased susceptibility to... ORPHA:18
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cryptorchidism, Facial cleft, Congenital hepatic fibrosis ORPHA:93271
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Short stature, Scoliosis, Fused cervical vertebrae, Joint laxity, Tarsal synos... OMIM:157800
Ichthyosis, Congenital, Autosomal Recessive 2
Growth delay, Paralysis OMIM:242100
Amyotrophic Lateral Sclerosis
Paralysis, Spasticity ORPHA:803
Robinow Syndrome
Kyphoscoliosis, Fused thoracic vertebrae, Short stature, Hemivertebrae, Scoliosis, Radioulnar dis... ORPHA:97360
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the fingers, Fused c... ORPHA:83617
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Short stature, Osteopetrosis, Periodic hypokalemic paresis, Cranial hyperos... OMIM:259730
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Paralysis, Myoclonus OMIM:203700
Reactive Arthritis
Joint stiffness, Joint swelling, Osteomyelitis, Cartilage destruction, Arthritis, Enthesitis ORPHA:29207
Gitelman Syndrome
Ataxia, Chondrocalcinosis, Paralysis, Delayed puberty, Growth delay OMIM:263800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hypertonia, Growth delay, Limb ataxia, Scoliosis, Spastic paraplegia, Thoracolumbar kyphosis, Par... ORPHA:2072
Inhalational Botulism
Paralysis ORPHA:254504
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Porphyria, Acute Intermittent
Paralysis, Respiratory 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
Cervical C2/C3 vertebral fusion, Short stature, Tracheomalacia, Wormian bones, Hip subluxation, A... ORPHA:444077
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Periodic hypokalemic paresis, Tremor, Paralysis, Tetraplegia ORPHA:79102
Holoprosencephaly 1
Facial cleft OMIM:236100
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Congenital hip dislocation, Absence of the sacrum, Myelomeningocele OMIM:306955
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Calcification of the auricular cartilage, Osteomalacia, Abnormal calcif... ORPHA:51608
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Short stature OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Short stature OMIM:227650
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Short stature OMIM:227646
Gitelman Syndrome
Chondrocalcinosis, Gout, Paralysis, Delayed puberty ORPHA:358
African Trypanosomiasis
Miscarriage, Myelopathy, Hemiparesis, Tremor, Involuntary movements, Choreoathetosis, Paralysis, ... ORPHA:3385
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Tsh-Secreting Pituitary Adenoma
Osteopenia, Periodic hypokalemic paresis, Osteoporosis, Tremor, Delayed puberty ORPHA:91347
Tyrosinemia, Type I
Periodic paralysis, Growth delay, Hypophosphatemic rickets OMIM:276700
Craniofacial Microsomia
Hemivertebrae, Scoliosis, Genu valgum, Vertebral hypoplasia, Branchial anomaly, Block vertebrae, ... OMIM:164210
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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