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 body length Tniktm3a(EUCOMM)Wtsi HOM Early adult 9.45×10-09
abnormal pelvic girdle bone morphology Tniktm3a(EUCOMM)Wtsi HOM Early adult 8.75×10-05
decreased total body fat amount Tniktm3a(EUCOMM)Wtsi HOM   Early adult 2.44×10-05

Download data as:  TSV  XLS

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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 Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

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 ORPHA:88616

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Hip dysplasia, Abnormal pelvic ... ORPHA:1509
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... ORPHA:293964
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... ORPHA:1146
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
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, Shallow acetabular fossae, Broa... OMIM:142669
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... ORPHA:1802
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Abnormal metacarpal morphology, Abnormal pelvic gi... ORPHA:2370
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... OMIM:615160
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Hypophosphatemic rickets, Neoplasm, Hypoinsulinemia, Neoplasm of the liver, Ute... ORPHA:2126
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Failure to thrive, Hypoglycemia, Small for gestational age OMIM:614702
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Increased C-peptide level, M... ORPHA:79644
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:617156
Hypochondroplasia
Abnormality of femur morphology, Short toe, Brachydactyly, Genu varum, Bowing of the long bones, ... ORPHA:429
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Increased level of galactitol in ... ORPHA:79237
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... OMIM:262190
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia OMIM:614736
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Cuboidal metacarpal, Abnormally shaped carpal bones, Tarsal synostosis, Abnormal p... ORPHA:968
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o... ORPHA:2928
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Jeune Syndrome
Cone-shaped epiphysis, Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Sho... ORPHA:474
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormality of femur morphology, Hip dislocation ORPHA:1508
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogen... OMIM:212140
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Thoracomelic Dysplasia
Abnormality of fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal m... ORPHA:1803
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Multiple myeloma, Abnormal circulating fatty-acid concentration, Glycosuria, In... ORPHA:2298
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Reactive hypoglycemia OMIM:600955
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Alg12-Cdg
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Recurrent hypoglycemia ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Steatorrhea OMIM:212065
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steator... ORPHA:14
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Glucagonoma, Increased circulating cortisol level, Adrenocortical adenoma, Car... OMIM:131100
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short femur, Radioulnar synostosis, ... ORPHA:1988
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Hypoplastic pelvis, Hypoplastic s... OMIM:618022
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... OMIM:618838
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia OMIM:613027
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Secondary Intestinal Lymphangiectasia
B-cell lymphoma, Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Dec... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... OMIM:617049
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus, Hypouri... OMIM:616026
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Abnormal metacarpal morphology, Tarsal synostosis, Abnormal pelv... ORPHA:3429
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Abnormal pelvic girdle bone morphology ORPHA:2097
Dubowitz Syndrome
Hypocholesterolemia, Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma OMIM:223370
Codas Syndrome
Congenital hip dislocation, Brachydactyly, Abnormal epiphysis morphology, Abnormal pelvic girdle ... ORPHA:1458
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Aredyld Syndrome
Abnormal pelvic girdle bone morphology, Lipoatrophy, Brachydactyly, Abnormal dental enamel morpho... ORPHA:1133
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Radioulnar synostosis, Aplasia/Hypoplasia of t... ORPHA:1788
Cleidocranial Dysplasia
Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly... ORPHA:1452
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Breast carcinoma, Decreased circulating cortisol level, Endometrial carcinoma,... ORPHA:90790
Chondrodysplasia-Disorder Of Sex Development Syndrome
Short phalanx of finger, Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, Br... ORPHA:1422
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Hypoalbuminemia, Facial ca... OMIM:270400
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity ORPHA:88616
Intellectual Disability, Buenos-Aires Type
Abnormal pelvic girdle bone morphology, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:3079
Harrod Syndrome
Arachnodactyly, Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology ORPHA:2115
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Finger syndactyly, Split foot, Abnormal metacarp... ORPHA:1112
Glycogen Storage Disease Ic
Hyperlipidemia, Hepatoblastoma, Hepatocellular carcinoma, Hypoglycemia, Hyperuricemia, Xanthelasma OMIM:232240
Camurati-Engelmann Disease
Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of long bone diaphyse... ORPHA:1328
Cartilage-Hair Hypoplasia
Tibial bowing, Metaphyseal dysplasia, Metaphyseal chondrodysplasia, Abnormal hip bone morphology,... ORPHA:175
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Abnormal iliac wing morphology ORPHA:3027

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) Tniktm3a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Tniktm3a(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Tniktm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tniktm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tniktm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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