Gene Summary

Name:
transcription factor EB
Synonyms:
TFEB,  bHLHe35,  Tcfeb

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 lean body mass Tfebtm1b(EUCOMM)Wtsi HET Early adult 8.62×10-05
embryonic lethality prior to tooth bud stage Tfebtm1b(EUCOMM)Wtsi HOM   E12.5 0.00
unresponsive to tactile stimuli Tfebtm1b(EUCOMM)Wtsi HET E18.5 0.00
trunk curl Tfebtm1b(EUCOMM)Wtsi HET Early adult 1.41×10-05
decreased circulating alkaline phosphatase level Tfebtm1a(EUCOMM)Wtsi HET   Early adult 3.87×10-05
increased lean body mass Tfebtm1a(EUCOMM)Wtsi HET Early adult 1.22×10-05
preweaning lethality, complete penetrance Tfebtm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased total body fat amount Tfebtm1b(EUCOMM)Wtsi HET   Early adult 5.04×10-05
decreased hemoglobin content Tfebtm1a(EUCOMM)Wtsi HET Early adult 2.78×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (3 of 3)
Aorta  Wholemount images heterozygote 100% (3 of 3)
Bone  Wholemount images heterozygote 100% (3 of 3)
Brain  Wholemount images heterozygote 100% (3 of 3)
Brainstem  Wholemount images heterozygote 100% (3 of 3)
Cartilage tissue  Wholemount images heterozygote 100% (3 of 3)
Cerebellum  Wholemount images heterozygote 100% (3 of 3)
Cerebral cortex  Wholemount images heterozygote 100% (3 of 3)
Gall bladder  Wholemount images heterozygote 100% (3 of 3)
Heart  Wholemount images heterozygote 100% (3 of 3)
Hippocampus  Wholemount images heterozygote 100% (3 of 3)
Hypothalamus  Wholemount images heterozygote 100% (3 of 3)
Kidney  Wholemount images heterozygote 100% (3 of 3)
Lower urinary tract  Wholemount images heterozygote Ambiguous
Olfactory lobe  Wholemount images heterozygote 100% (3 of 3)
Oviduct  Wholemount images heterozygote 33.33% (1 of 3)
Pancreas  Wholemount images heterozygote 100% (3 of 3)
Parathyroid gland  Wholemount images heterozygote 100% (3 of 3)
Peyer's patch  Wholemount images heterozygote 100% (3 of 3)
Pituitary gland  Wholemount images heterozygote 100% (3 of 3)
Spinal cord  Wholemount images heterozygote 100% (3 of 3)
Striatum  Wholemount images heterozygote 100% (3 of 3)
Testis  Wholemount images heterozygote 66.67% (2 of 3)
Thyroid gland  Wholemount images heterozygote 100% (3 of 3)
Trachea  Wholemount images heterozygote 100% (3 of 3)
Vas deferens  Wholemount images heterozygote 66.67% (2 of 3)
Vascular system  Wholemount images heterozygote 33.33% (1 of 3)
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cecum N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote Not available
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 100% (3 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote 100% (3 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Ambiguous
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 100% (3 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 3)
Axial skeleton N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Central nervous system ganglion N/A heterozygote 100% (3 of 3)
Cranium N/A heterozygote 0.0% (0 of 3)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 3)
Ear N/A heterozygote 0.0% (0 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Outer ear N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Femur pre-cartilage condensation N/A heterozygote 0.0% (0 of 3)
Footplate N/A heterozygote 0.0% (0 of 3)
Forearm N/A heterozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forelimb N/A heterozygote 0.0% (0 of 3)
Fronto-nasal process N/A heterozygote 0.0% (0 of 3)
Gut N/A heterozygote 0.0% (0 of 3)
Handplate N/A heterozygote 0.0% (0 of 3)
Head mesenchyme N/A heterozygote 0.0% (0 of 3)
Head N/A heterozygote 0.0% (0 of 3)
Heart ventricle N/A heterozygote 100% (3 of 3)
Heart N/A heterozygote 100% (3 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 3)
Humerus pre-cartilage condensation N/A heterozygote 0.0% (0 of 3)
Inner ear N/A heterozygote 0.0% (0 of 3)
Intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower leg N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Mesonephros of female N/A heterozygote 0.0% (0 of 3)
Mesonephros of male N/A heterozygote 0.0% (0 of 3)
Metanephros N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Nasal septum N/A heterozygote 0.0% (0 of 3)
Nose N/A heterozygote 0.0% (0 of 3)
Notochord N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 3)
Outflow tract N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
Pharynx N/A heterozygote 0.0% (0 of 3)
Radius-ulna pre-cartilage condensation N/A heterozygote 0.0% (0 of 3)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 3)
Skeleton N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 3)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 3)
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 3)
Upper arm N/A heterozygote 0.0% (0 of 3)
Upper leg N/A heterozygote 0.0% (0 of 3)
Urinary system N/A heterozygote 0.0% (0 of 3)
Vibrissa N/A heterozygote 0.0% (0 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

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 Skull Lateral Orientation

27 Images

Eye Morphology

VIP of right eye

36 Images

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

27 Images

Adult LacZ

LacZ Images Wholemount

18 Images

Eye Morphology

VIP of left fundus

36 Images

X-ray

XRay Images Forepaw

27 Images

Eye Morphology

VIP of left eye

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

27 Images

Eye Morphology

VIP of right fundus

36 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Tfeb 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 Tfeb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... OMIM:611521
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Dystonia 31
Abnormal posturing OMIM:619565
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... OMIM:206200
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Small for gestational age, Reduced C-peptide level OMIM:618858
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... ORPHA:848
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive, Inguinal hernia OMIM:614857
Huntington Disease-Like 1
Abnormal posturing, Weight loss ORPHA:157941
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Weight loss ORPHA:216866
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Sandifer Syndrome
Abnormal posturing, Hiatus hernia ORPHA:71272
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... ORPHA:231222
Trichothiodystrophy 6, Nonphotosensitive
Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Multiple joint contractures OMIM:128100
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... ORPHA:231214
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia ORPHA:98791
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Failure to thrive, Thr... OMIM:260400
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... ORPHA:330015
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Persistence of hemoglobin F OMIM:619769
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Thymoma
Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Vici Syndrome
Abnormal posturing, Failure to thrive OMIM:242840
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Alkaptonuria
Hemolytic anemia, Methemoglobinemia ORPHA:56

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 Tfeb

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 Tfeb.

There are 38 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Metabolic remodeling in cardiac hypertrophy and heart failure with reduced ejection fraction occurs independent of transcription factor EB in mice. Frontiers in cardiovascular medicine (January 2024) Tfebtm1c(EUCOMM)Wtsi PMC10800928
TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression. The EMBO journal (September 2023) Tfebtm1c(EUCOMM)Wtsi PMC10620765
Autophagy collaborates with apoptosis pathways to control oligodendrocyte number. Cell reports (August 2023) Tfebtm1c(EUCOMM)Wtsi PMC10529879
SLC38A2 and glutamine signalling in cDC1s dictate anti-tumour immunity. Nature (July 2023) Tfebtm1c(EUCOMM)Wtsi PMC10396969
Reprogramming tumour-associated macrophages to outcompete cancer cells. Nature (June 2023) Tfebtm1a(EUCOMM)Wtsi 37380769
TFEB and TFE3 drive kidney cystogenesis and tumorigenesis. EMBO molecular medicine (March 2023) Tfebtm1a(EUCOMM)Wtsi PMC10165358
TFEB-mediated lysosomal exocytosis alleviates high-fat diet-induced lipotoxicity in the kidney. JCI insight (February 2023) Tfebtm1a(EUCOMM)Wtsi PMC9977505
TFEB induces mitochondrial itaconate synthesis to suppress bacterial growth in macrophages. Nature metabolism (July 2022) Tfebtm1c(EUCOMM)Wtsi PMC9314259
Disrupting the MYC-TFEB Circuit Impairs Amino Acid Homeostasis and Provokes Metabolic Anergy. Cancer research (April 2022) Tfebtm1a(EUCOMM)Wtsi PMC9004540
Lysosomal Ca2+-mediated TFEB activation modulates mitophagy and functional adaptation of pancreatic β-cells to metabolic stress. Nature communications (March 2022) Tfebtm1a(EUCOMM)Wtsi PMC8921223
Loss of Hepatic Transcription Factor EB Attenuates Alcohol-Associated Liver Carcinogenesis. The American journal of pathology (October 2021) Tfebtm1c(EUCOMM)Wtsi PMC8747011
TFEB-GDF15 axis protects against obesity and insulin resistance as a lysosomal stress response. Nature metabolism (March 2021) Tfebtm1c(EUCOMM)Wtsi Tfebtm1a(EUCOMM)Wtsi 33758420
TFEB deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality. Molecular metabolism (January 2021) Tfebtm1c(EUCOMM)Wtsi PMC7903014
An autophagy enhancer ameliorates diabetes of human IAPP-transgenic mice through clearance of amyloidogenic oligomer. Nature communications (January 2021) Tfebtm1c(EUCOMM)Wtsi Tfebtm1a(EUCOMM)Wtsi PMC7794419
Endothelial TFEB (Transcription Factor EB) Improves Glucose Tolerance via Upregulation of IRS (Insulin Receptor Substrate) 1 and IRS2. Arteriosclerosis, thrombosis, and vascular biology (December 2020) Tfebtm1a(EUCOMM)Wtsi PMC8105265
LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury. Nature cell biology (September 2020) Tfebtm1a(EUCOMM)Wtsi 32989250
A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome. Nature (July 2020) Tfebtm1c(EUCOMM)Wtsi PMC7610377
TFEB regulates murine liver cell fate during development and regeneration. Nature communications (May 2020) Tfebtm1c(EUCOMM)Wtsi Tfebtm1b(EUCOMM)Wtsi PMC7235048
Loss of function of transcription factor EB remodels lipid metabolism and cell death pathways in the cardiomyocyte. Biochimica et biophysica acta. Molecular basis of disease (May 2020) Tfebtm1c(EUCOMM)Wtsi 32437957
Cyclodextrin Prevents Abdominal Aortic Aneurysm via Activation of Vascular Smooth Muscle Cell Transcription Factor EB. Circulation (May 2020) Tfebtm1c(EUCOMM)Wtsi Tfebtm1a(EUCOMM)Wtsi 32354235
Critical Role of TFEB-Mediated Lysosomal Biogenesis in Alcohol-Induced Pancreatitis in Mice and Humans. Cellular and molecular gastroenterology and hepatology (January 2020) Tfebtm1c(EUCOMM)Wtsi PMC7210479
Enhanced lysosomal degradation maintains the quiescent state of neural stem cells. Nature communications (November 2019) Tfebtm1a(EUCOMM)Wtsi PMC6884460
Polyamines Control eIF5A Hypusination, TFEB Translation, and Autophagy to Reverse B Cell Senescence. Molecular cell (August 2019) Tfebtm1a(EUCOMM)Wtsi PMC6863385
Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock. The EMBO journal (May 2019) Tfebtm1a(EUCOMM)Wtsi PMC6576167
Impaired TFEB-mediated lysosomal biogenesis promotes the development of pancreatitis in mice and is associated with human pancreatitis. Autophagy (March 2019) Tfebtm1c(EUCOMM)Wtsi Tfebtm1a(EUCOMM)Wtsi PMC6844531
TFEB controls vascular development by regulating the proliferation of endothelial cells. The EMBO journal (December 2018) Tfebtm1a(EUCOMM)Wtsi PMC6356157
Fasting Imparts a Switch to Alternative Daily Pathways in Liver and Muscle. Cell reports (December 2018) Tfebtm1a(EUCOMM)Wtsi PMC6433478
Spatiotemporal Control of CNS Myelination by Oligodendrocyte Programmed Cell Death through the TFEB-PUMA Axis. Cell (November 2018) Tfebtm1c(EUCOMM)Wtsi Tfebtm1a(EUCOMM)Wtsi Tfebtm1b(EUCOMM)Wtsi 30503207
TFEB enhances astroglial uptake of extracellular tau species and reduces tau spreading. The Journal of experimental medicine (August 2018) Tfebtm1a(EUCOMM)Wtsi 30108137
Endothelial TFEB (Transcription Factor EB) Positively Regulates Postischemic Angiogenesis. Circulation research (February 2018) Tfebtm1a(EUCOMM)Wtsi PMC5918429
Transcription factor TFEB cell-autonomously modulates susceptibility to intestinal epithelial cell injury in vivo. Scientific reports (October 2017) Tfebtm1a(EUCOMM)Wtsi PMC5655326
Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth. Science (New York, N.Y.) (June 2017) Tfebtm1a(EUCOMM)Wtsi PMC5730647
TFE3 regulates whole-body energy metabolism in cooperation with TFEB. EMBO molecular medicine (May 2017) Tfebtm1a(EUCOMM)Wtsi PMC5412821
Transcription Factor EB Controls Metabolic Flexibility during Exercise. Cell metabolism (December 2016) Tfebtm1a(EUCOMM)Wtsi PMC5241227
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nature cell biology (April 2013) Tfebtm1a(EUCOMM)Wtsi PMC3699877
A RANKL-PKCβ-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts. Genes & development (April 2013) Tfebtm1a(EUCOMM)Wtsi PMC3650231
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. The EMBO journal (February 2012) Tfebtm1a(EUCOMM)Wtsi PMC3298007
Satb2 is required for dendritic arborization and soma spacing in mouse cerebral cortex. Cerebral cortex (New York, N.Y. : 1991) (September 2011) Tfebtm1a(EUCOMM)Wtsi 21885532

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MGI Allele Allele Type Produced
Tfebtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Tfebtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tfebtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tfebtm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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