Gene Summary

Name:
trichoplein, keratin filament binding
Synonyms:
A930031F18Rik

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 HDL cholesterol level Tchptm1a(EUCOMM)Wtsi HOM Early adult 2.16×10-10
abnormal incisor morphology Tchptm1a(EUCOMM)Wtsi HOM Early adult 5.55×10-05
increased circulating cholesterol level Tchptm1a(EUCOMM)Wtsi HOM Early adult 5.61×10-15
increased circulating LDL cholesterol level Tchptm1a(EUCOMM)Wtsi HOM Early adult 7.35×10-11

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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 Skull Lateral Orientation

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Tchp 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 Tchp by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Laron Syndrome
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Hypercholesterolemia ORPHA:633
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Short philtrum, High palate, Micrognathia, Hypercholesterolemia ORPHA:254531
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutaneous adipose tissue,... OMIM:612526
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Lipase Deficiency, Combined
Lipodystrophy, Pancreatitis, Hypertriglyceridemia OMIM:246650
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh... OMIM:272440
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Cleft lip, Micrognathia, Smooth philtrum, Hypercholesterolemia, High palate, Cle... OMIM:616730
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... OMIM:613684
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly OMIM:608776
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Temple Syndrome
Bifid uvula, Micrognathia, Hypertriglyceridemia, Hypercholesterolemia, High palate, Short philtru... OMIM:616222
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Dental malocclusion, Widely-spaced maxillary central incisors, Incisor ... OMIM:619719
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Open mouth, Tented upper lip vermilion, Broad philtrum, Thick ... ORPHA:166108
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Micrognathia, Narrow mouth, Hypercholesterolemia, High palate, Short philtrum, Cleft... ORPHA:96184
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Smith-Magenis Syndrome
Abnormality of the dentition, Everted upper lip vermilion, Velopharyngeal insufficiency, Malar fl... OMIM:182290
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate OMIM:615502
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
Taurodontism
Taurodontia OMIM:272700
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Dental crowding, Abnormal tongue morphology, Microgn... ORPHA:2457
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Trichodentoosseous Syndrome
Taurodontia, Microdontia, Widely spaced teeth OMIM:190320
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:363417
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... OMIM:266510
Squalene Synthase Deficiency
Failure to thrive in infancy, Elbow flexion contracture, Hypocholesterolemia, Knee flexion contra... OMIM:618156
Galloway-Mowat Syndrome 7
Cleft lip, Micrognathia, Smooth philtrum, Hypercholesterolemia, High palate, Cleft palate OMIM:618348
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Smith-Magenis Syndrome
Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar... ORPHA:819
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Hypercholesterolemia ORPHA:401923
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar OMIM:302350
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Potocki-Lupski Syndrome
Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate OMIM:605282
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia OMIM:610706
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Macroglossia, Mandibular prognathia, Increased C-pept... ORPHA:528
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypothermia, Umbilical hernia ORPHA:95717
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Premature loss of permanent teeth, Hypertriglyceridemia OMIM:610644
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Megalocornea-Intellectual Disability Syndrome
Micrognathia, Open mouth, Short philtrum, Hypercholesterolemia, Everted lower lip vermilion, High... ORPHA:2479
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... ORPHA:364028
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... ORPHA:2409
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Neuhauser Syndrome
Bifid uvula, Long philtrum, Micrognathia, Hypercholesterolemia, High palate OMIM:249310
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... ORPHA:79324
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Delayed eruption of teeth, Retrognathia, Gingival overgrowth, Narrow mouth, Mala... OMIM:235510
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Micrognathia, Hyperlipidemia, Hypercholesterolemia, Calcinosis, High palate, Hyp... OMIM:248370
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia OMIM:618810
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ... ORPHA:438216
Marshall Syndrome
Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Thick lower lip v... OMIM:154780
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Umbilical hernia, Hypothermia, Abnormal circulating thyroglobulin co... ORPHA:95716
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia OMIM:615026
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, De... ORPHA:96180
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia... OMIM:245400
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Hypophosphatemia, Everted lowe... ORPHA:534
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Congenital Syphilis
Hyperplasia of the maxilla, Mulberry molar, Notched primary central incisor, High palate, Semilun... ORPHA:499009
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Large for gestational age, Hypothermia, Umbilical hernia ORPHA:226313
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hyperammonemia, Hypothermia, Hyperglutamatemia, Hyperglutaminemia, Low plasma ... OMIM:237310
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Macroglossia, Neonatal hyperbilirubinemia, Hype... ORPHA:90674
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Periodontitis, Xanthelasma, Hyperlipidemia, Hyperuricemia, Oral ulcer, Hypercholes... ORPHA:79259
Odontoonychodermal Dysplasia
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... OMIM:257980
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia, Inguinal hernia, Joint contracture OMIM:614498
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Prader-Willi Syndrome
Carious teeth, Downturned corners of mouth, Decreased HDL cholesterol concentration, Thin upper l... OMIM:176270
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ... OMIM:252100
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Microdo... ORPHA:289
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philtrum, Micrognat... ORPHA:444072
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Cleft mandible, Tented upper lip vermilion, Agenesis of cent... ORPHA:364577
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion OMIM:616202
Isolated Cleft Lip
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral... ORPHA:199302
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Hypothermia OMIM:614654
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Primary Erythromelalgia
Hypothermia ORPHA:90026
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... OMIM:150400
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Orofacial Cleft 15
Bilateral cleft lip, Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate OMIM:616788
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Hypothermia, Increased circulating thyroglobulin concentration, Umbi... ORPHA:226316
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Umbilical hernia, Hypothermia, Prolonged neonatal jaundice, Increase... ORPHA:90673
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Notched primary central incisor, Cleft lip OMIM:620519
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin... ORPHA:159
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:618329
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermilion border, Maxilla... ORPHA:73223
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Elsahy-Waters Syndrome
Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil... OMIM:211380
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Taurodontia, Pulp calcification, Enamel hypoplasia, Calcinosis, Hypercalcemia OMIM:211900
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Rubinstein-Taybi Syndrome 1
High, narrow palate, Narrow palate, Hypoplasia of the maxilla, Dental crowding, Retrognathia, Den... OMIM:180849
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate ORPHA:2804
Arthrogryposis, Distal, Type 12
High palate, Dental crowding, Agenesis of maxillary incisor OMIM:620545
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Cholelithiasis, Small for gestational age, Elevated circulating creatine kinase conc... OMIM:618775
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cholestatic liver disease, Failure to thrive, Hypocholesterolemia, Hepatic steat... OMIM:270400
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Hypothermia, Hyperammonemia ORPHA:292
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Hypothermia, Hyperammonemia, Hyperuricem... ORPHA:20
Doors Syndrome
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Narrow palate, ... ORPHA:79500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Hypodontia, Talon cusp, Narrow ... ORPHA:353281
Arboleda-Tham Syndrome
Mandibular prognathia, Microretrognathia, Downturned corners of mouth, Peg-shaped maxillary later... OMIM:616268
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hypothermia, Hip contracture OMIM:618493
Sepsis In Premature Infants
Decreased liver function, Hypothermia, Splenomegaly, Decreased body weight, Hepatomegaly, Elevate... ORPHA:90051
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, En... OMIM:309000
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Long philtrum, ... ORPHA:363611
Timothy Syndrome
Hypothermia, Hypocalcemia OMIM:601005
Chand Syndrome
Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla... ORPHA:1401
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Hy... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Hy... ORPHA:353277
Holoprosencephaly 9
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ... OMIM:610829
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Hypothermia ORPHA:33475
Peters-Plus Syndrome
Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Micrognathia, Sho... OMIM:261540
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypothermia, Hepatic ... ORPHA:17
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Narrow mouth, Hypertriglyceridemia OMIM:606721
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Cleft lip, Long philtrum OMIM:620568
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Tented upper lip vermilion, Hypercholesterolemia ORPHA:273
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Hypothermia, Her... ORPHA:565
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Microdontia, Delayed eruption of primary teeth, Absence of Stensen duct, Hypodonti... OMIM:149730
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Failure to thrive, Hypothermia, Low plasma citrulline, Hyperalaninemia, Hepatome... ORPHA:255210
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hyperammonemia, Hypom... ORPHA:79282
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hypomagnesemia, Hypoc... ORPHA:94093
Occipital Horn Syndrome
Atypical scarring of skin, Keloids, Hepatitis, Cholestasis, Inguinal hernia, Hypothermia, Hiatus ... ORPHA:198
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Micrognat... OMIM:268305
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Hypothermia, Increased circulating thyroglobulin concentration, Umbilical hernia OMIM:218700
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Bloom Syndrome
Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Malar flattening OMIM:210900
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Hypothermia, Increased blood urea nitrogen ORPHA:230
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Widely spaced teeth, Ankyloglossia, Micrognathia, Thin upper lip vermilion... OMIM:619841
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Overweight, Hypothermia, Umbilical hernia ORPHA:226307
Tbck-Related Intellectual Disability Syndrome
Hypothermia, Abnormal circulating lipid concentration ORPHA:488632
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Hypothermia ORPHA:99027
Alexander Disease
Hypothermia, Failure to thrive ORPHA:58
Sarcoidosis
Hepatic failure, Decreased liver function, Portal hypertension, Hypothermia, Eosinophilia, Scarri... ORPHA:797
Ethylene Glycol Poisoning
Hypothermia, Hyperkalemia, Hypocalcemia ORPHA:31826
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated circulating hepatic transaminase concentration, Obesity, Hyperlipidemia, Hypothermia, Hy... ORPHA:293987
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Elevated circulating cr... ORPHA:99826
Hereditary Sensory And Autonomic Neuropathy Type 4
Hypothermia, Atypical scarring of skin, Corneal scarring, Fasciitis ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Hypothermia, Uterine prolapse ORPHA:438213
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Orofacial cleft, Agenes... OMIM:309800

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 Tchp

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 Tchp.

There are 6 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) Tchptm1a(EUCOMM)Wtsi PMC7263671
Trichoplein binds PCM1 and controls endothelial cell function by regulating autophagy. EMBO reports (April 2020) Tchptm1a(EUCOMM)Wtsi PMC7332983
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Tchptm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)