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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, Short stature, Cartilage destruction, Delayed skeletal maturation, Avascular n... ORPHA:2380
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Abnormal od... OMIM:277300
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Short stature, Spinal instability OMIM:251250
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple enchondromatosis,... ORPHA:296
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft OMIM:600776
Neuropathy, Hereditary Motor And Sensory, Russe Type
Claw hand deformity, Scoliosis, Paralysis OMIM:605285
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivert... ORPHA:1436
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... OMIM:113000
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Scoliosis ORPHA:640
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormality of the ... ORPHA:2345
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Vertebral segmentation defect OMIM:618845
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat... OMIM:122600
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft ORPHA:3374
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae OMIM:309620
Diaphanospondylodysostosis
Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb... ORPHA:66637
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Kniest Dysplasia
Arthropathy, Enlarged joints, Joint stiffness, Short neck, Hypoplasia of the odontoid process, De... ORPHA:485
Familial Congenital Mirror Movements
Poor fine motor coordination, Fused cervical vertebrae, Cerebral palsy, Clumsiness ORPHA:238722
Supernumerary Nostril
Facial cleft ORPHA:141096
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... OMIM:256050
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft OMIM:600251
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... ORPHA:1416
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Vocal cord paralysis, Distal arthrogryposis, Neonatal death OMIM:616287
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Short stature, Short neck, Hemivertebrae, Hip dis... OMIM:615583
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Short stature, Elbow contracture, Craniosynostosis, Tarsal syn... OMIM:178110
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Keratoconus Posticus Circumscriptus
Growth delay, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion,... OMIM:244600
Acromelic Frontonasal Dysostosis
Encephalocele, Cryptorchidism, Hypopituitarism, Midline facial cleft OMIM:603671
Lethal Kniest-Like Dysplasia
Short neck, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Abnormal cartilage morp... ORPHA:2347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scolio... OMIM:606612
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Facial cleft, Anterior encephalocele OMIM:601357
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Short stature, Scoliosis, Thoracic hemivertebrae, Spasticity ORPHA:1445
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... ORPHA:93315
Anophthalmia Plus Syndrome
Facial cleft, Spina bifida ORPHA:1104
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis OMIM:613710
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short stature, Short nec... OMIM:613686
Lethal Congenital Contracture Syndrome 7
Distal arthrogryposis, Paralysis, Knee flexion contracture OMIM:616286
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Kniest Dysplasia
Hip contracture, Enlarged joints, Rhizomelia, Tracheomalacia, Short neck, Delayed epiphyseal ossi... OMIM:156550
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Neonatal death, Tracheo... OMIM:245650
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft, Ethmoidal encephalocele OMIM:607597
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short stature, Short neck, Delayed skeleta... ORPHA:2332
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, Periodic paralysis OMIM:614198
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Lamb-Shaffer Syndrome
Ataxia, Mild postnatal growth retardation, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis... ORPHA:530983
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Flexion contracture, Vocal cord paralysis, Hand tremor, Poor fine... ORPHA:99947
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the... ORPHA:2916
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral... OMIM:616549
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Oculomaxillofacial Dysostosis
Facial cleft ORPHA:1794
Short Stature, Brussels Type
Growth delay, Delayed epiphyseal ossification, Short stature, Calcification of cartilage ORPHA:2867
Acute Peripheral Arterial Occlusion
Limb pain, Lower limb pain, Paralysis ORPHA:90064
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Spina bifida occulta, Facial cleft, Cryptorchidism ORPHA:1786
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Frequent falls OMIM:607155
Frontofacionasal Dysplasia
Encephalocele, Facial cleft ORPHA:1791
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Mosaic Trisomy 9
Spina bifida, Asplenia, Cryptorchidism, Facial cleft, Abnormal liver lobulation, Intrauterine gro... ORPHA:99776
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short stature, Short neck, Joint hyperflexibility, Umbi... ORPHA:915
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae ORPHA:2522
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Growth delay, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility,... OMIM:617333
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... OMIM:618000
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Oculocerebrocutaneous Syndrome
Cryptorchidism, Facial cleft ORPHA:1647
Horner Syndrome, Congenital
Paralysis OMIM:143000
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Atelosteogenesis, Type I
Encephalocele, Rhizomelia, Short neck, Thoracic platyspondyly, Elbow dislocation, Fused cervical ... OMIM:108720
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Fused cervical vertebra... ORPHA:268882
Larsen Syndrome
Joint laxity, Vertebral fusion, Short stature, Cervical kyphosis, Elbow dislocation, Dislocated w... OMIM:150250
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Frontometaphyseal Dysplasia 1
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... OMIM:305620
Lateral Meningocele Syndrome
Vertebral fusion, Short stature, Short neck, Kyphosis, Meningocele, Sclerosis of skull base, Scol... OMIM:130720
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusi... OMIM:617190
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Variegate Porphyria
Paralysis OMIM:176200
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck OMIM:118100
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis, Capitate-hamate ... OMIM:272460
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Sh... OMIM:151200
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short stature ORPHA:370010
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Facial cleft, Hypoplasia of the thymus, Thyroid... ORPHA:861
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Koolen-De Vries Syndrome
Vertebral fusion, Short stature, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral seg... ORPHA:96169
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Short stature, Butterfly vertebrae OMIM:619227
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling OMIM:612852
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short stature, Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder disl... OMIM:171480
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
3Mc Syndrome 3
Cryptorchidism, Facial cleft OMIM:248340
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft, Supernumerary nipple ORPHA:1236
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Intrauterine growth retardation, Short stature, Short neck OMIM:609053
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Short stature, Kyphosis, Hip dislocatio... OMIM:610443
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Paralysis, Rigidity, Abnormal cartilage morphology, Bone cyst, Osteoly... ORPHA:2396
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Caudal Regression Syndrome
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... ORPHA:3027
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal bon... ORPHA:86822
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Short stature, Thoracolumbar scoliosis, Short... OMIM:268310
Frontonasal Dysplasia 2
Encephalocele, Intrauterine growth retardation, Tessier number 13 facial cleft, Bilateral cryptor... OMIM:613451
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture, Kyphosis, Voc... ORPHA:98863
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Short stature, Craniosy... OMIM:213980
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Congenital Myopathy 15
Osteopenia, Vocal cord paralysis, Joint hypermobility, Camptodactyly OMIM:620161
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vertebrae, Scoliosis OMIM:271520
Microphthalmia, Syndromic 3
Vertebral fusion, Short stature, Postnatal growth retardation, Hemivertebrae, Spastic tetraplegia... OMIM:206900
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Intrauterine growth retardation, Facial cleft OMIM:263650
Otopalatodigital Syndrome Type 2
Encephalocele, Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Elbow ... ORPHA:90652
Alkaptonuria
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... ORPHA:56
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Spina bifida, Irregular ossification of hand bones, Hemivertebr... OMIM:109400
Constricting Bands, Congenital
Encephalocele, Facial cleft OMIM:217100
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Death in childhood, Tongue fasc... OMIM:211530
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... ORPHA:261
Mycophenolate Mofetil Embryopathy
Facial cleft ORPHA:268249
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Short stature, Flat acetabular roof OMIM:617159
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Hemivertebrae, Short neck ORPHA:1780
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Multiple Osteochondromas
Neuropathic spinal arthropathy, Abnormality of the knee, Short stature, Limitation of joint mobil... ORPHA:321
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... ORPHA:3320
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Death in infancy, Cerebral palsy, Death in early adulthood, Flex... ORPHA:682
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Isolated Arrhinia
Facial cleft ORPHA:1134
Myhre Syndrome
Vertebral fusion, Ataxia, Short stature, Joint stiffness, Short neck, Limitation of joint mobilit... OMIM:139210
Moderate Hemophilia A
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... ORPHA:169805
Pseudohypoaldosteronism Type 2
Growth delay, Short stature, Periodic paralysis ORPHA:757
Andersen-Tawil Syndrome
Joint laxity, Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, S... ORPHA:37553
Kbg Syndrome
Vertebral fusion, Short stature, Short neck, Delayed skeletal maturation, Vertebral arch anomaly,... OMIM:148050
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Blepharospasm, Camptodac... ORPHA:233
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Cervical hemivertebrae, Short stature, Spina bifida, Short neck, Generalized ... ORPHA:508498
Japanese Encephalitis
Stiff neck, Weakness due to upper motor neuron dysfunction, Genu recurvatum, Paralysis, Tremor, E... ORPHA:79139
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis OMIM:607323
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Fanconi Anemia, Complementation Group C
Short stature, Flexion contracture, Prolonged G2 phase of cell cycle, Anterior wedging of T12, In... OMIM:227645
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Myelomeningocele, Facial cleft OMIM:219000
Aicardi Syndrome
Block vertebrae, Hemiplegia/hemiparesis, Hypertonia, Scoliosis, Delayed puberty, Spasticity, Butt... ORPHA:50
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Facial cleft ORPHA:306542
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Short stature, Periodic paralysis, Delayed skeletal maturation, Scoliosis, Periodic... OMIM:170390
Adult-Onset Still Disease
Cartilage destruction, Arthritis, Joint swelling ORPHA:829
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Vocal cord paralysis, Myoclonus, Scoliosis, Spasticity, Hip subluxation ORPHA:500144
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Vertebral fusion, Vertebral segmentation defect, Radial club hand ORPHA:959
Rift Valley Fever
Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Death in infancy, Congenital hip dislocation, Camptodactyly of finger, Short ne... ORPHA:373
Tick-Borne Encephalitis
Speech apraxia, Back pain, Stiff neck, Incoordination, Paralysis, Tremor, Limb pain, Hyperkinetic... ORPHA:297
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Aicardi Syndrome
Block vertebrae, Spina bifida, Postnatal growth retardation, Hemivertebrae, Scoliosis, Butterfly ... OMIM:304050
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Hyperextensible hand joints, Proportionate short stature, Camptodactyly OMIM:227330
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Short stature, Kyphosis, Delayed skeletal maturation, Hip disloc... OMIM:194190
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Tetraparesis, Scoliosis, Tracheomalacia OMIM:203700
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... OMIM:617137
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Hypoplasia of the odontoid process, Wide anterior fontanel, Atlantoaxial instability,... OMIM:271665
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Short stature, Spina bifida, Patellar aplasia, Hip dislocation, Fused cervical ... OMIM:274000
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Short stature OMIM:616368
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Glioblastoma
Paralysis ORPHA:360
Poliomyelitis
Stiff neck, Paralysis, Paraparesis, Hyperkinetic movements, Fasciculations ORPHA:2912
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Distal Renal Tubular Acidosis
Short stature, Osteomalacia, Paralysis, Rickets, Bone pain, Increased susceptibility to fractures... ORPHA:18
Cardiospondylocarpofacial Syndrome
Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Fused cervical verte... OMIM:157800
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Keutel Syndrome
Short stature, Calcification of cartilage ORPHA:85202
Ichthyosis, Congenital, Autosomal Recessive 2
Growth delay, Paralysis OMIM:242100
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cryptorchidism, Congenital hepatic fibrosis, Facial cleft ORPHA:93271
Robinow Syndrome
Fused thoracic vertebrae, Short stature, Kyphoscoliosis, Hemivertebrae, Scoliosis, Umbilical hernia ORPHA:97360
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Osteopetrosis, Autosomal Recessive 3
Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis, Periodic hypokalemic pa... OMIM:259730
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Cle... ORPHA:83617
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia, Growth delay, Hypertonia, Sco... ORPHA:2072
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Gitelman Syndrome
Ataxia, Paralysis, Growth delay, Delayed puberty, Chondrocalcinosis OMIM:263800
Inhalational Botulism
Paralysis ORPHA:254504
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Holoprosencephaly 1
Facial cleft OMIM:236100
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Reactive Arthritis
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Joint swelling ORPHA:29207
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Short stature, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral... ORPHA:444077
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach... OMIM:613458
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Wide anterior fontanel, Vocal cord paralysis... ORPHA:798
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Myelomeningocele, Congenital hip dislocation, Block vertebrae OMIM:306955
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Abnormal calcifi... 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
Gitelman Syndrome
Chondrocalcinosis, Delayed puberty, Gout, Paralysis ORPHA:358
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Short stature OMIM:227646
African Trypanosomiasis
Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Tremor, Myelopath... ORPHA:3385
Tyrosinemia, Type I
Hypophosphatemic rickets, Growth delay, Periodic paralysis OMIM:276700
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Tsh-Secreting Pituitary Adenoma
Osteopenia, Tremor, Osteoporosis, Delayed puberty, Periodic hypokalemic paresis ORPHA:91347
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Hemivertebrae, Genu valgum, Branchial anomaly, Scoliosi... 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.

Order Mouse and ES Cells

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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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