Gene Summary

Name:
transcription factor EC
Synonyms:
TFEC,  bHLHe34,  Tcfec

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
increased circulating cholesterol level Tfectm1b(KOMP)Wtsi HOM Early adult 2.70×10-05
abnormal coat/hair pigmentation Tfectm1b(KOMP)Wtsi HOM Early adult 6.15×10-11
abnormal tail morphology Tfectm1b(KOMP)Wtsi HOM   Early adult 7.01×10-08

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 50% (2 of 4)
Colon  Section images heterozygote 100% (4 of 4)
Duodenum  Section images heterozygote 25% (1 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 25% (1 of 4)
Ileum  Section images heterozygote 100% (4 of 4)
Kidney  Wholemount images  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 75% (3 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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%
blood
bone marrow
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%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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 adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

10 Images

Adult LacZ

LacZ Images Wholemount

9 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

35 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Tfec 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 Tfec by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Fair hair OMIM:618808
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hirsutism, Hypercholesterolemia, Hypocalcemia OMIM:612526
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Partial albinism ORPHA:79476
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Methionine Malabsorption Syndrome
Blue irides, Positive ferric chloride test, White hair OMIM:250900
Morgagni-Stewart-Morel Syndrome
Hirsutism, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Cog4-Cdg
Hypercholesterolemia, Thick hair ORPHA:263501
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypoplastic fingernail, Abnormality of skin pigmentation, Sparse hair, Incr... ORPHA:2457
Obesity And Hypopigmentation
Red hair OMIM:620195
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Low posterior hairline, Increased C-peptide level, Low anterior hairline, H... ORPHA:528
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti... ORPHA:79477
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Hypercholesterolemia, Thick hair ORPHA:401923
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Synophrys OMIM:182290
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Laron Syndrome
Hypercholesterolemia ORPHA:633
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia, Small nail OMIM:610644
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Hypertriglyceridemia, Absent eyelashes, Absent eyebrow, Sparse hair, A... ORPHA:363618
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Elevated circulat... OMIM:618156
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Synophrys ORPHA:819
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Red hair OMIM:609734
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
Neuhauser Syndrome
Iris transillumination defect, Hypercholesterolemia, Low anterior hairline OMIM:249310
Classic Phenylketonuria
Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Alopecia, Hyperlipidemia, Sparse scalp hair, Mottled pigmentation, Hypercholesterolem... OMIM:248370
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hirsutism, Hypercholesterolemia OMIM:151660
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Generalized hypopigmentation, Fron... OMIM:176270
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Hyperpigmentation of the skin... ORPHA:186
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Generalized hypopigmentation, Sparse scalp hair, Hyponatremia, Hypophosphatemia, Hyp... ORPHA:534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Sparse scalp hair, Sparse hair, Hypercholesterolemia, Pigmentary retinopathy OMIM:606721
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Syndromic Diarrhea
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Ge... ORPHA:84064
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia, Pigmentary retinopathy OMIM:118450
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentation of the skin, La... ORPHA:167
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Steinert Myotonic Dystrophy
Hypercholesterolemia, Early balding, Alopecia ORPHA:273
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... OMIM:309000
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc... OMIM:242840
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokalemia, Dec... OMIM:219800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177901
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Hyperbilirubinemia, Abnormal eyelash morphol... OMIM:619488
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Abnormal eyelash morphology, Hypopigment... ORPHA:818
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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 Tfec

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 Tfec.

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

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
Tfectm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tfectm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Tfectm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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