Gene Summary

tau tubulin kinase 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased grip strength Ttbk1em1(IMPC)J HOM Early adult 5.29×10-08
increased circulating glucose level Ttbk1em1(IMPC)J HOM Early adult 5.42×10-07
increased fasting circulating glucose level Ttbk1em1(IMPC)J HOM Early adult 3.82×10-17

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Electrocardiogram (ECG)

Waveform Image

13 Images

Human diseases caused by Ttbk1 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 Ttbk1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Essential Fructosuria
Hyperglycemia ORPHA:2056
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, Insulin-resis... OMIM:604367
Familial Renal Glucosuria
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia ORPHA:69076
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia ORPHA:2089
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... ORPHA:552
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Cole Disease
Hyperglycemia OMIM:615522
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Donohue Syndrome
Hyperglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:246200
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes mellitus, Glycosu... ORPHA:2298
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Short Syndrome
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Postprandial hyperglycemia, Fasting hy... ORPHA:2088
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Dend Syndrome
Hyperglycemia ORPHA:79134
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Symptomatic Form Of Hemochromatosis Type 1
Hyperglycemia, Diabetes mellitus ORPHA:465508
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Lipodystrophy, Familial Partial, Type 2
Hyperglycemia, Type II diabetes mellitus, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Impaired glucose tolerance OMIM:248370
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Postprandial hyperglycemia... ORPHA:769
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hyperglycemia, Hypoglycemia, Recurrent hypoglycemia OMIM:124000
Atypical Werner Syndrome
Hyperinsulinemia, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Insulin-resistant dia... ORPHA:79474
Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Postprandial hyperglycemi... ORPHA:508
Scorpion Envenomation
Hyperglycemia, Glycosuria ORPHA:466677
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia OMIM:220111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia ORPHA:293987


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 Ttbk1

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 Ttbk1.

No publications found that use IMPC mice or data for Ttbk1.

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MGI Allele Allele Type Produced
Ttbk1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttbk1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ttbk1em1(IMPC)J Exon Deletion Mice

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