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Gene: Tanc2 MGI:2444121

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Gene Summary

Name:
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Synonyms:
3526402J09Rik,  5730590C14Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Tanc2em1(IMPC)Hmgu HOM   Early adult 6.66×10-05
decreased respiratory quotient Tanc2em1(IMPC)Hmgu HOM   Early adult 9.06×10-05
increased circulating alkaline phosphatase level Tanc2em1(IMPC)Hmgu HOM Early adult 1.85×10-05
short tibia Tanc2em1(IMPC)Hmgu HOM Early adult 1.51×10-05
abnormal bone structure Tanc2em1(IMPC)Hmgu HOM   Early adult 4.43×10-05
hyperactivity Tanc2em1(IMPC)Hmgu HOM Early adult 9.27×10-08
increased grip strength Tanc2em1(IMPC)Hmgu HOM Early adult 4.08×10-07
abnormal locomotor behavior Tanc2em1(IMPC)Hmgu HOM Early adult 7.39×10-06
abnormal behavior Tanc2em1(IMPC)Hmgu HOM Early adult 4.92×10-05
impaired glucose tolerance Tanc2em1(IMPC)Hmgu HOM Early adult 8.66×10-12
decreased thigmotaxis Tanc2em1(IMPC)Hmgu HOM Early adult 5.36×10-05
increased circulating phosphate level Tanc2em1(IMPC)Hmgu HOM   Early adult 6.67×10-05
increased exploration in new environment Tanc2em1(IMPC)Hmgu HOM Early adult 1.02×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Tanc2 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.

The table below shows human diseases associated to Tanc2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906

The table below shows human diseases predicted to be associated to Tanc2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... OMIM:618618
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Short toe, Short finger, Hypocalcemic tetany, Subcutaneous ossification, Brach... OMIM:103580
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, H... ORPHA:94089
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Increa... ORPHA:36913
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Difficulty walkin... ORPHA:93323
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Brachydactyly, Cognitive impairment, Osteop... OMIM:612462
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly, Hyperphosphatemia, Hypocalcemia OMIM:603233
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B... OMIM:619073
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Depression, Hyperphosphatemia, Short 3... ORPHA:79444
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Choreoathetosis, Broad distal phalan... ORPHA:79443
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Blue Diaper Syndrome
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia ORPHA:94086
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Difficulty walking, Fibular bowing, ... OMIM:600081
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Diffi... OMIM:264700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... OMIM:617994
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot, Hyp... OMIM:241410
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Diffi... OMIM:277440
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hyperuricemia, Lateral femoral bowing, Bowing of the long bones, H... OMIM:239000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Difficulty walking, Hypophosphatemic... OMIM:241530
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Fatigable weakness of swallowing muscles, Difficulty walking, Hypocalcemia, Hy... ORPHA:99845
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Smith-Magenis syndrome
Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Fatigable weakness, Hypocalcem... ORPHA:428
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip bone morphology, Gen... ORPHA:93160
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Calvarial hyperostosis, Long hallux, Cone-shaped epiphyses of the phalanges of... OMIM:101800
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Femoral bowing, Fibula... OMIM:300554
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot ORPHA:2323
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Linear Verrucous Nevus Syndrome
Genu recurvatum, Mental deterioration, Toe syndactyly, Talipes, Hypophosphatemia, Reduced bone mi... ORPHA:2611
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Hypophosphatemic Bone Disease
Osteomalacia, Hypophosphatemia, Rickets, Bowing of the legs OMIM:146350
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... ORPHA:208441
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Osteomalacia, Difficulty... ORPHA:289157
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... ORPHA:94093
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Glycosuria, Bulging epiphyses, Osteomalacia, Femoral bo... OMIM:300009
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia OMIM:211900
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... OMIM:127000
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemic r... ORPHA:157215
Fibrous Dysplasia Of Bone
Osteomalacia, Difficulty walking, Abnormal tibia morphology, Bowing of the long bones, Hypophosph... ORPHA:249
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Oncogenic Osteomalacia
Abnormal foot morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Hypocalcemi... ORPHA:352540
Cystinosis
Type I diabetes mellitus, Polydipsia, Rickets, Hypokalemia, Hypophosphatemia, Gait disturbance, M... ORPHA:213
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia OMIM:193100
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Clubbing of fingers, Micrognathia, Hip contracture, Knee flexion... OMIM:156400
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Hypoglycemia, Sandal gap, Hypocalcemia, Short humerus, Short ribs, Talip... OMIM:607143
Landau-Kleffner Syndrome
Depression, Memory impairment, Gait ataxia, Emotional lability, Short attention span, Aggressive ... ORPHA:98818
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Mental deterioration, Hyperactivity, Hypertriglyceridemia OMIM:615924
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Stenosis of the medullary c... ORPHA:93325
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Talipes equinovalgus, Gait ataxia, Self-mutilation, Hyperactivity, External tibial torsion, Coxa ... OMIM:620445
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to ... OMIM:615516
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Glycosuria, Genu valgum OMIM:618913
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Hypophosphatemia, Bowing of the legs ORPHA:89937
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Short finger, 2-3 toe syndactyly, Aggressive behavior, Pes p... OMIM:619467
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Hypercapnia, Elevated creatine kinase after exercise ORPHA:423
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Bowing of the long bones, Hypophosph... ORPHA:2088
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Progres... ORPHA:248111
Dent Disease 2
Hypophosphatemia, Cognitive impairment, Elevated circulating creatine kinase concentration OMIM:300555
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, H... ORPHA:466650
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
X-Linked Hypophosphatemia
Flattening of the talar dome, Shortening of the talar neck, Abnormal epiphysis morphology, Ricket... ORPHA:89936
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus OMIM:616026
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia OMIM:612287
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Difficulty walking, Confus... ORPHA:100924
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Glycosuria, Osteomalacia, Hypophosphatemia OMIM:613388
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmet... ORPHA:289176
Fanconi Renotubular Syndrome 1
Rickets, Glycosuria, Osteomalacia, Hypokalemia, Hypophosphatemia OMIM:134600
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Confusion, Elevated circulating creatinine concentration, Hyperkalemia, Agitation ORPHA:340
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Hypophosphatemia OMIM:612286
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... OMIM:616300
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Metaph... ORPHA:239
Dent Disease
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Glycosuria, Bulging epiphyses, ... ORPHA:1652
Opsismodysplasia
Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Hypoplas... OMIM:258480
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia ORPHA:398063
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Hyperactivity, Brachydactyly, Short metatarsal, Advanced ossification of c... OMIM:614613
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Sandal gap, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Clinoda... ORPHA:228402
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Rickets, Glycosuria, Osteomalacia, Hyperbilirubinemia, ... OMIM:227810
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Clinodactyly, Hypoglycemia, Micrognathia, Short ... ORPHA:73272
Hyperlysinemia, Type I
Hypoornithinemia, Short attention span, Hyperlysinemia, Hyperactivity, Cognitive impairment, Dysd... OMIM:238700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Depression, Osteomalacia, Hypophosphatemia, Hypercalcemia OMIM:600740
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Tal... OMIM:619743
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Infantile Nephropathic Cystinosis
Polydipsia, Glycosuria, Rickets, Hypokalemia, Hypophosphatemia, Cognitive impairment, Abnormal bl... ORPHA:411629
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Ab... ORPHA:247585
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Depression, Short attention span, Aggressive behavior, Attention de... OMIM:620242
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... ORPHA:96334
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Polydipsia, Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda... OMIM:617925
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Polydipsia, Glycosuria, Rickets, Hypomagnesemia, H... OMIM:219800
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Mental deterioration, Preaxial polydactyly, Pes cavus, Low frustration ... ORPHA:163681
Occipital Horn Syndrome
Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Dys... ORPHA:198
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder, Pes planus, Hy... OMIM:617600
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic... ORPHA:411634
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal ... OMIM:114000
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:43
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia OMIM:605911
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp... OMIM:258315
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Inability to walk, Confusion, Short ... ORPHA:139396
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Abnormal femur morphology, Fibr... ORPHA:562
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Insulin-Like Growth Factor I Deficiency
Osteopenia, Micrognathia, Short attention span, Hyperactivity, Clinodactyly of the 5th finger OMIM:608747
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... OMIM:263520
Raine Syndrome
Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Hypophosphatemia, Brachydactyly,... OMIM:259775
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Hypokalemia, Osteoporosi... OMIM:219090
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... OMIM:610042
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Abnormal epiphysis morphology, Osteomalacia, Micrognathia, G... ORPHA:534
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co... OMIM:164900
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Osteomalac... ORPHA:3337
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Cyanosis, Ankle clonus, I... OMIM:620423
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Talipes calcaneovalgus, Gait ataxia, Emotional lability, Dysmetria, Short a... OMIM:610217
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... OMIM:612716
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia ORPHA:469
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Pearson Syndrome
Glycosuria, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Ataxia,... ORPHA:699
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Reduced bone mineral density, Hypocalcemia, Bowing of the long bon... ORPHA:667
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... ORPHA:958
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Hypophosphatemia, Osteoporosis, Dysphagia ORPHA:99880
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp... ORPHA:79102
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Hypophosphatemia, Osteoporosis, Dysphagia ORPHA:143
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop... OMIM:228520
Tibial Hemimelia
Absent tibia OMIM:275220
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,... OMIM:164745
Argininemia
Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Spastic gait OMIM:207800
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... ORPHA:140
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ... OMIM:208500
Choreoacanthocytosis
Mental deterioration, Equinovarus deformity, Emotional lability, Hair-pulling, Loss of ambulation... ORPHA:2388
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib... OMIM:200980
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Abnormal foot morphology, Akinesia, Obsessive-comp... OMIM:234200
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia OMIM:229600
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication... OMIM:236680
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... OMIM:218330
Kinsship Syndrome
Osteopenia, Bruxism, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislo... OMIM:619297
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Charge Syndrome
Bifid femur, Short thumb, Hand monodactyly, Micrognathia, Hypocalcemia, Self-mutilation, Down-slo... OMIM:214800
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Craniofacial osteosclerosis, Fibular aplasia, Micrognathia, Sclerosis of skull base, Fibular hypo... OMIM:300373
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157

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 Tanc2

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 Tanc2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk. Disease models & mechanisms (March 2022) Tanc2em1(IMPC)Hmgu PMC8906171
Tanc2-mediated mTOR inhibition balances mTORC1/2 signaling in the developing mouse brain and human neurons. Nature communications (May 2021) Tanc2tm2a(KOMP)Wtsi PMC8113471

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tanc2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tanc2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tanc2em1(IMPC)Hmgu Exon Deletion Mice
Tanc2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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