Gene Summary

Name:
TRAF2 and NCK interacting kinase
Synonyms:
C530008O15Rik,  4831440I19Rik,  1500031A17Rik,  C630040K21Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Tniktm3a(EUCOMM)Wtsi HOM   Early adult 2.44×10-05
abnormal pelvic girdle bone morphology Tniktm3a(EUCOMM)Wtsi HOM Early adult 8.75×10-05
decreased body length Tniktm3a(EUCOMM)Wtsi HOM Early adult 9.45×10-09

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Viewing: all phenotypes

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 Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 76 images

Human diseases caused by Tnik 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 Tnik by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Coxopodopatellar Syndrome
Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Aplasia/Hypopl... ORPHA:1509
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Distal Arthrogryposis Type 1
Adducted thumb, Rocker bottom foot, Ulnar deviation of finger, Overlapping fingers, Camptodactyly... ORPHA:1146
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... OMIM:610947
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive OMIM:616834
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioratio... OMIM:605361
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight ORPHA:314811
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... OMIM:142669
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Immunodeficiency 8
Hyperactivity OMIM:615401
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:181393
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Hypochondroplasia
Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short long bone, Bra... OMIM:146000
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Metaphyseal irregularity, ... OMIM:250460
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... ORPHA:1802
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Mat... ORPHA:324575
Juvenile Huntington Disease
Dystonia, Dementia, Cerebellar atrophy, Bradykinesia, Hyperactivity, Progressive cerebellar ataxi... ORPHA:248111
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy, Ataxia OMIM:613402
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea, Failure to thrive OMIM:266510
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Abnormal circulating leucine concentration, Hypoglycemia, Hyperammo... ORPHA:6
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Mental deterioration, Ataxia OMIM:615924
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Inability to walk OMIM:618090
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Increased circulating farnesol concentration, ... OMIM:618156
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Aminoacylase 1 Deficiency
Hyperactivity, Cerebellar atrophy OMIM:609924
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, Abnormality of pelvic girdle bone mo... ORPHA:2370
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia, Failure to thrive OMIM:607765
Potocki-Lupski Syndrome
Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Hyperalaninemia, Hyperammonemia, Elevated circulating se... OMIM:615160
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea, Failure to thrive ORPHA:71
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Hypoglycemia, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neopla... ORPHA:2126
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Small for gestational age, Hyperalaninemia OMIM:614702
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Sandal gap, Abnormality of pelvic girdle bone morpholog... ORPHA:2725
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Progressive Supranuclear Palsy
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Abnormal synaptic transmission, Un... ORPHA:683
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Increased circulating cort... ORPHA:79644
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, Ty... ORPHA:96180
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls ORPHA:2382
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hypochondroplasia
Genu varum, Abnormality of femur morphology, Bowing of the long bones, Abnormality of the metaphy... ORPHA:429
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Hypoalbuminemia OMIM:617156
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolem... ORPHA:79237
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia, Failure to thrive OMIM:614736
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Hip dislocation, Short me... ORPHA:968
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology, Brachydactyly, Camptodac... ORPHA:2928
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level OMIM:607398
Mody
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... ORPHA:552
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormality of pelvic girdle bone morphology, Thickene... OMIM:144750
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... ORPHA:474
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Hip dislocation, Abnormality of femur morphology ORPHA:1508
Cln5 Disease
Cerebellar atrophy, Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Trun... ORPHA:228360
Xq25 Microduplication Syndrome
Hyperactivity, Cerebellar hypoplasia ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Cerebellar hypoplasia OMIM:300979
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of pelvic girdle bone morphology, Slender long bone ORPHA:1506
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Hydrocephalus, Broad-based gait OMIM:619470
Landau-Kleffner Syndrome
Steppage gait, Social and occupational deterioration, Hyperactivity, Attention deficit hyperactiv... ORPHA:98818
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Failure to thrive, Hyperammonemia, Recurrent hypoglycemia, Impaired gluconeogenesis... OMIM:212140
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Thoracomelic Dysplasia
Diaphyseal thickening, Abnormality of the metaphysis, Genu valgum, Abnormality of fibula morpholo... ORPHA:1803
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Bifid humerus, Hitchhiker thumb, San... OMIM:256050
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Proprotein Convertase 1/3 Deficiency
Obesity, Reactive hypoglycemia, Decreased circulating cortisol level OMIM:600955
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Abnormality of body weight, Insulin-resistant diabetes mellitus, Fasting hy... ORPHA:2298
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Cerebellar hypoplasia OMIM:617302
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... ORPHA:363400
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Psychomotor deterioration, Cerebellar atrophy, Cerebellar gliosis, Hy... ORPHA:35069
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Failure to thrive, Hypoalbuminemia OMIM:212065
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Attention deficit hyperacti... ORPHA:1929
Morm Syndrome
Hyperactivity ORPHA:75858
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Gomez-Lopez-Hernandez Syndrome
Agenesis of cerebellar vermis, Cognitive impairment, Hyperactivity, Ataxia, Cerebellar vermis hyp... OMIM:601853
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypocholesterolemia, Failure to thrive, Abnormal circula... ORPHA:14
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Failure to thrive, Recurrent hypoglycemia, Hypoalbuminemia ORPHA:79324
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Adrenocortical adenoma, Zollinger-Ellison syndrome, Hypoglycemia, Adenoma sebaceum... OMIM:131100
Femoral-Facial Syndrome
Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Abnormality of pelvic girdle bone mor... ORPHA:1988
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralization, Metaphyseal irregul... OMIM:307800
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Abnormal cerebellar vermis morphology OMIM:613192
Pycnodysostosis
Abnormality of pelvic girdle bone morphology, Osteolytic defects of the distal phalanges of the h... OMIM:265800
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Cerebellar atrophy, Hyperactivity, Inability to walk, Ataxia, Mental ... ORPHA:168491
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circulating cortisol ... OMIM:618838
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Osteogenesis Imperfecta, Type V
Abnormality of pelvic girdle bone morphology, Anterior radial head dislocation, Dentinogenesis im... OMIM:610967
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Hypoplastic scapulae, Congenital diaphragmatic hernia, Absent thumb, Bowed humer... OMIM:618022
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Cerebellar atrophy, Ataxia OMIM:271980
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, L... ORPHA:90363
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Mental ... OMIM:610217
Moebius Syndrome
Lower limb undergrowth, Arthrogryposis multiplex congenita, Aplasia/Hypoplasia involving the meta... OMIM:157900
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones OMIM:607634
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormality of femur morphology, Finger syndactyly, Abnormality of pelvic gird... ORPHA:3429
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Conjugated hyperbili... OMIM:617049
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles ORPHA:166108
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Stippled calcification proximal humeral epiphyses, ... OMIM:222765
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Hyperactivity, Ataxia, Cerebellar vermis atrophy, Mental deterioratio... ORPHA:163681
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Abnormality of pelvic girdle bone morphology, Club-shaped distal femur, Erl... OMIM:123000
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Failure to thrive OMIM:210200
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Cognitive impairment, Hyperactivity, Attention deficit hyperactivity ... ORPHA:43
Grant Syndrome
Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone morphology, Bowing of the lon... ORPHA:2097
Mend Syndrome
Dandy-Walker malformation, Hyperactivity, Hydrocephalus OMIM:300960
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Codas Syndrome
Abnormality of epiphysis morphology, Abnormal dental enamel morphology, Congenital hip dislocatio... ORPHA:1458
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Progressive language deterioration OMIM:610042
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Cerebellar atrophy ORPHA:369939
Aredyld Syndrome
Abnormality of pelvic girdle bone morphology, Lipoatrophy, Abnormal dental enamel morphology, Bra... ORPHA:1133
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Finger syndactyly, Aplas... ORPHA:1788
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology OMIM:166600
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Hyperactivity, Hydrocephalus, Attentio... ORPHA:8
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... ORPHA:139396
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Facial capillary hemangioma, Failure to thrive, Elevated 7-dehydrocholesterol OMIM:270400
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, C... OMIM:300486
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration OMIM:252920
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Hypoglycemia, Failure to thrive, Endometrial carcinoma, Breast carcin... ORPHA:90790
Cleidocranial Dysplasia
Short clavicles, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysis morphology, Hypop... ORPHA:1452
Chondrodysplasia-Disorder Of Sex Development Syndrome
Broad long bones, Short metacarpal, Abnormality of pelvic girdle bone morphology, Short phalanx o... ORPHA:1422
Myopathy With Extrapyramidal Signs
Dystonia, Cerebellar dysplasia, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Abnormal pons morphology ORPHA:85327
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Abnormality of pelvic girdle bone morphology, Tibial bowing, Broad long bones OMIM:166210
Isolated Epispadias
Abnormality of pelvic girdle bone morphology ORPHA:93928
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Bowing of the long bones, Abnormality of pelvic girdle bone morphology OMIM:602080
Legius Syndrome
Dystonia, Cognitive impairment, Hyperactivity, Chiari type I malformation, Attention deficit hype... ORPHA:137605
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Bladder Exstrophy And Epispadias Complex
Abnormality of pelvic girdle bone morphology, Inguinal hernia OMIM:600057
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia, Cerebellar atrophy OMIM:103050
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Spastic Paraplegia 9A, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Hiatus hernia, Carpal bone hypoplasia OMIM:601162
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Dementia, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Mental deter... OMIM:234200
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Metaphyseal widening, Short palm, Femoral bowing, Abnormality of pelvic gi... OMIM:250250
Harrod Syndrome
Abnormality of pelvic girdle bone morphology, Arachnodactyly, Abnormal shoulder morphology ORPHA:2115
Intellectual Disability, Buenos-Aires Type
Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:3079
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/Hypoplasia of the phalan... ORPHA:1112
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Absent glenoid fossa, Genu varum, Aplasia/Hypoplasia of the patella,... OMIM:224690
Citrullinemia Type Ii
Hyperactivity, Memory impairment, Lethargy ORPHA:247585
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Hypokalemia, Weight loss, Hypophosphatemia, Glycosuria, Hyperuricosur... ORPHA:3337
Joubert Syndrome 1
Dysgenesis of the cerebellar vermis, Occipital myelomeningocele, Agenesis of cerebellar vermis, H... OMIM:213300
Glycogen Storage Disease Ic
Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Hepatoblastoma, Hyperuricemia, Xanthelasma OMIM:232240
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stippled calcificatio... OMIM:302960
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Abnormal diaphysis morphology, Abnormality of the uln... ORPHA:1328
Sclerosteosis 1
Deviation of finger, Abnormality of pelvic girdle bone morphology, 2-3 finger syndactyly, Cortica... OMIM:269500
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Mucopolysaccharidosis Type 3
Gait disturbance, Dementia, Loss of ambulation, Progressive neurologic deterioration, Hyperactivi... ORPHA:581
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Diaphyseal thickening, Tibial bowing, Abnormality of epiphysis morphology,... ORPHA:175
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Capitate-hamate fusion, Epiphyseal dysplasia, Coxa vara, Carpal synostosis, Sh... OMIM:272460
Caudal Regression Sequence
Abnormal iliac wing morphology, Abnormality of pelvic girdle bone morphology ORPHA:3027
Argininemia
Hyperactivity, Spastic gait, Cerebellar atrophy OMIM:207800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:614756
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Cognitive impairment, Progressive neurologic deterioration, Hyperact... ORPHA:580
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Olivopontocerebellar hypoplasia, Hydrocephalus ORPHA:457284
Choreoacanthocytosis
Lingual dystonia, Loss of ambulation, Bradyphrenia, Oromandibular dystonia, Falls, Bradykinesia, ... ORPHA:2388
Histidinemia
Hyperactivity ORPHA:2157
Saethre-Chotzen Syndrome
Absent first metatarsal, Toe syndactyly, Hallux valgus, Partial duplication of the distal phalanx... OMIM:101400
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Arthrogryposis multiplex congenita, Slender long bone, Camptodactyly of finge... OMIM:208150

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 Tnik

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 Tnik.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tniktm3a(EUCOMM)Wtsi PMC7263671
TNIK signaling imprints CD8+ T cell memory formation early after priming. Nature communications (April 2020) Tniktm3a(EUCOMM)Wtsi PMC7118140
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tniktm3a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)