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Gene: Txndc11 MGI:1923620

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Gene Summary

Name:
thioredoxin domain containing 11
Synonyms:
EF-hand binding protein 1,  2810408E11Rik,  EFP1,  Txdc11

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 thigmotaxis Txndc11em1(IMPC)J HOM   Early adult 7.07×10-06
hyperactivity Txndc11em1(IMPC)J HOM   Early adult 2.97×10-07
decreased bone mineral content Txndc11em1(IMPC)J HOM Early adult 2.27×10-10
decreased mean corpuscular hemoglobin Txndc11em1(IMPC)J HOM   Early adult 1.18×10-05
abnormal auditory brainstem response Txndc11em1(IMPC)J HOM   Early adult 1.07×10-07
abnormal bone structure Txndc11em1(IMPC)J HOM Early adult 2.96×10-09
decreased locomotor activity Txndc11em1(IMPC)J HOM   Early adult 2.46×10-05
increased circulating cholesterol level Txndc11em1(IMPC)J HOM Early adult 4.56×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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Electroretinography 3

Fundus file

4 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Txndc11 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 Txndc11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Schizophrenia 15
Hyperactivity OMIM:613950
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... OMIM:144300
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive... OMIM:239500
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Ataxia, Steppage gait, Hypoalbuminemia, Hypercholester... OMIM:607250
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia, Let... OMIM:605899
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder OMIM:617113
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Anorexia ORPHA:99852
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Multifocal epilep... ORPHA:599373
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Attention deficit hyperactivity disorder, Increased C-pepti... OMIM:620211
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Hearing impairment, Aggressive behavior OMIM:620270
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, EEG abnormality, Onychotillomani... OMIM:182290
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves ORPHA:2382
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... ORPHA:3077
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Irrit... ORPHA:848
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... ORPHA:206443
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior ORPHA:208441
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Depression, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism... OMIM:618718
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... ORPHA:248111
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Cog4-Cdg
Ataxia, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... ORPHA:52368
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Glycogen Storage Disease Ixa1
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, EEG abnormality, Elevated ci... OMIM:271980
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Cln5 Disease
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, Uns... ORPHA:228360
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hyperchole... ORPHA:2479
Cholesteryl Ester Storage Disease
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Increased theta frequency activity in EEG, EEG with focal epile... ORPHA:1929
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia ORPHA:411515
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, EEG abnormality,... ORPHA:500180
Smith-Magenis Syndrome
Hypertriglyceridemia, Self-injurious behavior, EEG abnormality, Gait disturbance, Attention defic... ORPHA:819
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Neuhauser Syndrome
Osteopenia, Ataxia, Cupped ear, Large fleshy ears, Dysphagia, Hypercholesterolemia OMIM:249310
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Optic Atrophy 11
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Splen... OMIM:617302
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... OMIM:617101
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... OMIM:278000
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab... ORPHA:100924
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized... ORPHA:163681
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abnormal circulating s... ORPHA:470
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... ORPHA:168491
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Depression, Attention deficit hyperactivity dis... ORPHA:90674
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... OMIM:300946
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Galactokinase Deficiency
Sensorineural hearing impairment, Hepatosplenomegaly, Increased level of galactitol in plasma, Hy... ORPHA:79237
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Unsteady ga... ORPHA:1942
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Posteriorly rotated ears OMIM:616222
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hypercholesterolemia, Bone cyst, Increased C-peptide level ORPHA:528
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy, Ataxia OMIM:616881
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... ORPHA:264580
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Osteoporo... ORPHA:79240
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... OMIM:610042
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Se... ORPHA:760
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Osteolytic defects of the dist... ORPHA:2457
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Laron Syndrome
Hypercholesterolemia ORPHA:633
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis, Addictive alcohol use ORPHA:90065
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Cranial hyperostosis, Imbalanced hemoglobin sy... ORPHA:330015
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Splenomegaly, Dense calvaria, Hearing impairment OMIM:252920
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Aggressive behavior, ... ORPHA:909
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... ORPHA:98794
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity, Sensorineural hearing impairment OMIM:608747
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Abnormality of peri... ORPHA:90321
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... ORPHA:90041
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Cupped ea... OMIM:617052
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Hyperlipidemia, Progressive clavicular acroosteolysis, Osteolytic defects... OMIM:248370
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Depression, Irritability, Self-injurious behavior, ... ORPHA:449291
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Aganglionic megacolon, Abnormal circulating creatine concentration, Atheto... ORPHA:52503
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Low-set, posteriorly rotated ears, Osteomalacia, Hypoammonemia, Thrombocytopenia, D... ORPHA:534
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokines... OMIM:610217
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Se... OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Xanthelasma,... ORPHA:79259
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... ORPHA:401973
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... ORPHA:275761
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Depression, Choreoat... OMIM:234200
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic... ORPHA:98791
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,... OMIM:260400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg... OMIM:609136
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Lowe Oculocerebrorenal Syndrome
Osteomalacia, Elevated circulating creatine kinase concentration, Aggressive behavior, Elevated m... OMIM:309000
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Optic atrophy, Depr... ORPHA:847
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Sensorineural hearing impairment, Elevated amniotic fluid alpha-fetoprotein, L... ORPHA:423479
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Dec... ORPHA:2388
Cockayne Syndrome B
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:133540
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait OMIM:207800
Steinert Myotonic Dystrophy
Hypercholesterolemia, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Depressi... ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Low-se... OMIM:606721
Cockayne Syndrome A
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:216400
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Reduced alpha/beta synthesis ratio, H... OMIM:301040
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Papilledema OMIM:619471
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Alagille Syndrome 1
Hypercholesterolemia, Macrotia, Hypertriglyceridemia, Low-set ears OMIM:118450
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:619534
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy 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 Txndc11

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 Txndc11.

No publications found that use IMPC mice or data for Txndc11.

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
Txndc11tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Txndc11em1(IMPC)J Exon Deletion Mice
Txndc11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Txndc11tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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