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:
Arnt interacting protein,  Aint

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
Cartilage destruction, Joint dislocation, Avascular necrosis, Short stature, Delayed skeletal mat... ORPHA:2380
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Back pain, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportion... OMIM:277300
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Short stature OMIM:251250
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Abn... ORPHA:93284
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Short... OMIM:613686
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Ollier Disease
Platyspondyly, Osteolysis, Abnormal cartilage morphology, Bone pain, Multiple enchondromatosis, J... ORPHA:296
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Choreoathetosis, Vertebral segmentation defect OMIM:221950
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis OMIM:605285
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Thoracic hemivertebrae, Short stature, Fused cervical vertebrae, Abnormal sacrum morph... ORPHA:1436
Brachydactyly, Type B1
Hypoplastic sacrum, Wide anterior fontanel, Camptodactyly, Hemivertebrae, Vertebral fusion, Delay... OMIM:113000
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, He... ORPHA:2345
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Stillbirth, Coronal cleft vertebrae, Death in infancy, Lumbar hyperlord... OMIM:256050
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Supernumerary Nostril
Facial cleft ORPHA:141096
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportionate... OMIM:122600
Familial Congenital Mirror Movements
Cerebral palsy, Poor fine motor coordination, Fused cervical vertebrae, Clumsiness ORPHA:238722
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synost... OMIM:178110
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Thoracic hemivertebrae, Short stature, Fused cervical vertebrae, Prominent metopic ridge OMIM:309620
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Death in infancy, Vertebral segmentation defect, Sacral dimple OMIM:618845
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Abnormality of the intervertebral disk, Cal... ORPHA:1416
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis ORPHA:640
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Disproportionate shor... ORPHA:485
Verheij Syndrome
Scoliosis, Growth delay, Hemivertebrae, Vertebral fusion, Short stature, Hip dislocation, Short neck OMIM:615583
Triopia
Midline facial cleft ORPHA:3374
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
Lethal Kniest-Like Dysplasia
Platyspondyly, Abnormal cartilage matrix, Severe short-limb dwarfism, Wide anterior fontanel, Cor... ORPHA:2347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Frequent falls OMIM:606612
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extrapyramidal dyskinesia... ORPHA:71277
Keratoconus Posticus Circumscriptus
Growth delay, Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation... OMIM:244600
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck, Abnormal vertebral s... ORPHA:66637
Glut1 Deficiency Syndrome 1
Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, Spasticity OMIM:606777
Asymmetric Short Stature Syndrome
Asymmetric short stature, Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae, Short stature, Spasticity ORPHA:1445
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft ORPHA:1104
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Kniest Dysplasia
Platyspondyly, Enlarged joints, Coronal cleft vertebrae, Umbilical hernia, Disproportionate short... OMIM:156550
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion OMIM:214300
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Stereotypy, Butterfly... ORPHA:313892
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Ataxia, Mild postnatal growth retardation, Stereotypy, Upper motor ... ORPHA:530983
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Contractures of the joints of the lower limbs, Paralysis OMIM:613710
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Paralysis, Knee flexion contracture OMIM:616286
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Short statur... ORPHA:2332
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Facial cleft OMIM:601357
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:312150
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Hemivertebrae, Ver... ORPHA:2916
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:253290
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Wildervanck Syndrome
Meningocele, Short neck, Fused cervical vertebrae ORPHA:3456
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Short Stature, Brussels Type
Calcification of cartilage, Growth delay, Short stature, Delayed epiphyseal ossification ORPHA:2867
Oculomaxillofacial Dysostosis
Facial cleft ORPHA:1794
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft OMIM:607597
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Ectopic ossification in muscle tissue, Ectopic ossifi... OMIM:135100
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Abnormal vertebral... ORPHA:90650
Mosaic Trisomy 9
Cryptorchidism, Spina bifida, Abnormal liver lobulation, Asplenia, Intrauterine growth retardatio... ORPHA:99776
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Cryptorchidism, Facial cleft, Spina bifida occulta ORPHA:1786
Acute Peripheral Arterial Occlusion
Lower limb pain, Paralysis, Limb pain ORPHA:90064
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Postural tremor, Hand tremor, Upper limb pain, Flexion contracture, Poor fine motor co... ORPHA:99947
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Aarskog-Scott Syndrome
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Umbilical hernia, Abnormality o... ORPHA:915
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short stature, Short neck, Fused cervical vertebrae ORPHA:2522
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Frequent falls OMIM:607155
Gorlin Syndrome
Scoliosis, Vertebral wedging, Vertebral fusion, Hemivertebrae ORPHA:377
Oculocerebrocutaneous Syndrome
Cryptorchidism, Facial cleft ORPHA:1647
Larsen-Like Syndrome, Lethal Type
Neonatal death, Abnormal cartilage matrix, Joint dislocation, Multiple joint dislocation OMIM:245650
Kbg Syndrome
Thoracic kyphosis, Vertebral fusion, Short stature, Delayed skeletal maturation, Vertebral arch a... OMIM:148050
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Dysmetria, Limb fasciculations OMIM:606183
Atelosteogenesis, Type I
Stillbirth, Coronal cleft vertebrae, Elbow dislocation, Rhizomelia, Thoracic platyspondyly, Neona... OMIM:108720
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Absent ossification of ca... OMIM:601376
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Kyphosis, Umbilical he... OMIM:130720
Frontofacionasal Dysplasia
Facial cleft ORPHA:1791
Horner Syndrome, Congenital
Paralysis OMIM:143000
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Short stature, Carpal ... OMIM:157800
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Partial fusi... OMIM:305620
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Spastic diplegia, Postnatal growth retardation, Hemivertebrae, Vertebral fu... OMIM:206900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Variegate Porphyria
Paralysis OMIM:176200
Short Rib-Polydactyly Syndrome
Hepatic cysts, Hepatic fibrosis, Intrauterine growth retardation, Abnormality of the liver, Facia... ORPHA:1505
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hemivertebrae, Vertebral fusion, Spinal canal stenosis, Kyphoscoliosis, Hypopl... OMIM:263540
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Dislocated radial head, Axillary pterygium, Arthrogryposis multiplex congenita, Anteri... OMIM:265000
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Gait ataxia, Cervical C2/C3 vertebral fusion, Prog... ORPHA:268882
Juvenile Idiopathic Arthritis
Abnormal sacroiliac joint morphology, Joint swelling, Abnormal joint morphology, Cartilage destru... ORPHA:92
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Short neck, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion OMIM:118100
Treacher-Collins Syndrome
Cryptorchidism, Branchial fistula, Hypoplasia of the thymus, Thyroid hypoplasia, Facial cleft ORPHA:861
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short stature ORPHA:370010
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Renal Tubular Acidosis, Distal, 1
Periodic hypokalemic paresis, Postnatal growth retardation, Osteomalacia, Pathologic fracture, Pe... OMIM:179800
Koolen-De Vries Syndrome
Scoliosis, Joint hyperflexibility, Kyphosis, Vertebral fusion, Short stature, Hip dislocation, Ve... ORPHA:96169
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Hyperlordosis, Limited elbow extension, Tarsal synostosis, C2-C3 subluxation, Capitate... OMIM:272460
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Short stature, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Vertebral segmentation defect, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple, Facial cleft ORPHA:1236
3Mc Syndrome 3
Cryptorchidism, Facial cleft OMIM:248340
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Short neck, Fused cervical vertebrae, Short stature OMIM:609053
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Periostitis, Osteopenia, Fused cervical vertebrae, Osteomyelitis OMIM:612852
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Radioulnar synostosis, Elbow dislocation, Shoulder dislocation, Asymmetric radial dysplasia, Genu... OMIM:171480
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Parkinsonism ORPHA:140989
Mosaic Trisomy 20
Scoliosis, Kyphosis, Vertebral segmentation defect, Vertebral fusion, Spinal canal stenosis, Intr... ORPHA:1724
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Osteolysis, Craniofacial hyperostosis, Hypertonia, Abnormal cartilage morphology, Bon... ORPHA:2396
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex congenita, Intrauterine... ORPHA:86822
Caudal Regression Sequence
Scoliosis, Joint stiffness, Abnormal vertebral segmentation and fusion, Hypoplastic vertebral bod... ORPHA:3027
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Wide anterior fontanel, Umbilical hernia, Thoracic hemivertebrae, ... OMIM:268310
Alkaptonuria
Joint swelling, Intervertebral disk calcification, Cartilage destruction, Reduced bone mineral de... ORPHA:56
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Dislocated radial head, Craniosynostosis, Camptodactyly of fin... ORPHA:1826
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Kyphosis, Spondylolisthesis, Sacral dimple, Vertebral fusion, Sho... OMIM:610443
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Hemivertebrae, Vertebral fusion, Block vertebrae, Short neck OMIM:271520
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Spina bifida, Hemivertebrae, Vertebral fusion, K... OMIM:109400
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Achilles tendon contracture, Spinal rigidity, Join... ORPHA:98863
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis ORPHA:681
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Disproportionate short-trunk short stature, Intrauter... ORPHA:94095
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Synostosis of carpal bo... ORPHA:90652
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Bilateral cryptorchidism, Facial cleft OMIM:263650
Isolated Arrhinia
Facial cleft ORPHA:1134
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Short neck, Hemivertebrae ORPHA:1780
Mycophenolate Mofetil Embryopathy
Facial cleft ORPHA:268249
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Achilles tendon contracture, Spinal rigidity, Join... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Achilles tendon contracture, Spinal rigidity, Join... ORPHA:261
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Wormian bones, Tetraparesis, Bone pain, Increased susceptibility ... ORPHA:666
Andersen Cardiodysrhythmic Periodic Paralysis
Scoliosis, Periodic hypokalemic paresis, Joint laxity, Delayed skeletal maturation, Periodic para... OMIM:170390
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Genu varum, Hip dislocati... ORPHA:3320
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Clumsiness, Kyphosis, Knee clonus, Ankle clonus, Ataxia, Vocal cord paralysis, Tongue ... OMIM:211530
Myhre Syndrome
Platyspondyly, Camptodactyly, Enlarged vertebral pedicles, Ataxia, Vertebral fusion, Birth length... OMIM:139210
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Synovitis, Cartilage destruction, Hip contracture, Limitation o... ORPHA:169805
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Cervical hemivertebrae, Generalized joint laxity, Thoracic kyphosis, Hypermobility ... ORPHA:508498
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Camptodactyly, Blepharospasm, Abnormal vertebral segmentat... ORPHA:233
Hyperkalemic Periodic Paralysis
Hypertonia, Flexion contracture, Death in infancy, Periodic hyperkalemic paralysis, Death in earl... ORPHA:682
Constricting Bands, Congenital
Facial cleft OMIM:217100
Charcot-Marie-Tooth Disease Type 4C
Gait ataxia, Abnormality of the vertebral column, Head tremor, Vertebral fusion, Tongue fascicula... ORPHA:99949
Pseudohypoaldosteronism Type 2
Growth delay, Short stature, Periodic paralysis ORPHA:757
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Carpal bone hypoplasia, Death in infancy, Carpal synostosis, Hip dislocation, Genu ... OMIM:274000
Snakebite Envenomation
Pseudobulbar paralysis, Paralysis, Respiratory paralysis ORPHA:449285
Fanconi Anemia, Complementation Group C
Flexion contracture, Anterior wedging of T12, Short stature, Intrauterine growth retardation, Pro... OMIM:227645
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Japanese Encephalitis
Pill-rolling tremor, Tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Gen... ORPHA:79139
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Lym... ORPHA:2442
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:230800
Ichthyosis, Congenital, Autosomal Recessive 2
Growth delay, Paralysis OMIM:242100
Gm2-Gangliosidosis, Ab Variant
Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerated startle... OMIM:272750
Adult-Onset Still Disease
Cartilage destruction, Joint swelling, Arthritis ORPHA:829
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Hemiparesis, Paralysis, Progressive spastic paraparesis ORPHA:43
Fraser Syndrome 1
Cryptorchidism, Myelomeningocele, Facial cleft OMIM:219000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Myoclonus, Paralysis ORPHA:83601
Aicardi Syndrome
Scoliosis, Hypertonia, Spasticity, Hemiplegia/hemiparesis, Delayed puberty, Block vertebrae, Butt... ORPHA:50
Duane-Radial Ray Syndrome
Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Tick-Borne Encephalitis
Tremor, Incoordination, Speech apraxia, Hyperkinetic movements, Back pain, Paralysis, Limb pain, ... ORPHA:297
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Wolf-Hirschhorn Syndrome
Scoliosis, Radioulnar synostosis, Abnormal form of the vertebral bodies, Abnormal sternal ossific... OMIM:194190
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Camptodactyly of finger, Congenital hip dislocation, ... ORPHA:373
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Aicardi Syndrome
Scoliosis, Spina bifida, Postnatal growth retardation, Hemivertebrae, Block vertebrae, Butterfly ... OMIM:304050
Acro-Renal-Ocular Syndrome
Vertebral fusion, Radial club hand, Vertebral segmentation defect, Postnatal growth retardation ORPHA:959
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Camptodactyly, Hyperextensible hand joints, Proportionate short stature OMIM:227330
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Facial cleft ORPHA:306542
Hemifacial Microsomia
Vertebral hypoplasia, Block vertebrae, Branchial anomaly, Hemivertebrae OMIM:164210
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Foodborne Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:228371
Apert Syndrome
Humeroradial synostosis, Synostosis of carpal bones, Delayed cranial suture closure, Coronal cran... OMIM:101200
Distal Renal Tubular Acidosis
Rickets, Growth delay, Bone pain, Paralysis, Reduced bone mineral density, Osteomalacia, Increase... ORPHA:18
Poliomyelitis
Paraparesis, Hyperkinetic movements, Paralysis, Fasciculations, Stiff neck ORPHA:2912
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Congenital hip dislocation, Camptodactyly, Delayed puberty, Hi... OMIM:617137
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cryptorchidism, Congenital hepatic fibrosis, Facial cleft ORPHA:93271
Amyotrophic Lateral Sclerosis
Paralysis, Spasticity ORPHA:803
Glioblastoma
Paralysis ORPHA:360
Keutel Syndrome
Calcification of cartilage, Short stature ORPHA:85202
Robinow Syndrome
Scoliosis, Radioulnar dislocation, Fused thoracic vertebrae, Umbilical hernia, Hemivertebrae, Sho... ORPHA:97360
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Postnatal growth retardation, Cor... ORPHA:83617
Reactive Arthritis
Joint swelling, Enthesitis, Cartilage destruction, Joint stiffness, Osteomyelitis, Arthritis ORPHA:29207
Gitelman Syndrome
Chondrocalcinosis, Growth delay, Paralysis, Ataxia, Delayed puberty OMIM:263800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Scoliosis, Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia, Hypertonia, Growth delay, Ocu... ORPHA:2072
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Osteopetrosis, Cranial hyperostosis, Short stature, Diaphyseal scle... OMIM:259730
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
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis OMIM:613239
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Paralysis, Myoclonus, Ataxia OMIM:203700
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
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, S... ORPHA:444077
Thyrotoxic Periodic Paralysis
Tremor, Periodic hypokalemic paresis, Paralysis, Respiratory paralysis, Tetraplegia ORPHA:79102
Holoprosencephaly 1
Facial cleft OMIM:236100
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... 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
Gout, Delayed puberty, Paralysis, Chondrocalcinosis ORPHA:358
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Short stature OMIM:227646
Tsh-Secreting Pituitary Adenoma
Osteoporosis, Tremor, Periodic hypokalemic paresis, Delayed puberty, Osteopenia ORPHA:91347
Tyrosinemia, Type I
Hypophosphatemic rickets, Periodic paralysis OMIM:276700
African Trypanosomiasis
Tremor, Hemiparesis, Paralysis, Involuntary movements, Fasciculations, Choreoathetosis, Abnormal ... ORPHA:3385
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) Targeting vectors

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