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Gene: Litaf MGI:1929512

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
LPS-induced TN factor
Synonyms:
3222402J11Rik,  Nedd4 WW domain-binding protein 3,  N4WBP3,  TBX1 protein

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Litaf 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.

The table below shows human diseases associated to Litaf by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601098

The table below shows human diseases predicted to be associated to Litaf by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... ORPHA:208981
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Leukocytosis, Demyelinating motor ne... ORPHA:206594
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... OMIM:606483
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... OMIM:118200
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Null Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... ORPHA:280234
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... OMIM:145900
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:607706
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... OMIM:605588
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis OMIM:606777
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... ORPHA:99953
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... ORPHA:101097
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis OMIM:606183
Horner Syndrome, Congenital
Paralysis OMIM:143000
Abetalipoproteinemia
Peripheral demyelination, Acanthocytosis, CNS demyelination OMIM:200100
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Charcot-Marie-Tooth Disease, Type 4D
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased nerve conductio... OMIM:601455
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... OMIM:618184
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:600882
Krabbe Disease
Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Optic atrophy, CNS demyelinatio... OMIM:245200
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy OMIM:615035
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocity, Perip... OMIM:604168
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Galloway-Mowat Syndrome 5
Pachygyria, Peripheral demyelination OMIM:617731
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Peripheral demyelination OMIM:252320
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... ORPHA:98856
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Peripheral demyelination, Axonal loss OMIM:617672
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Tangier Disease
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination, Splenomegaly OMIM:205400
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis OMIM:607641
Variegate Porphyria
Paralysis OMIM:176200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Peripheral demyelination, Axonal loss OMIM:221770
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, CNS demyelination OMIM:220111
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination OMIM:609033
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis ORPHA:681
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Trigeminal Neuralgia
Cranial nerve compression, Peripheral demyelination, CNS demyelination ORPHA:221091
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon... OMIM:604484
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve... ORPHA:90103
Spinocerebellar Ataxia Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:98757
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... OMIM:302800
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axonal de... OMIM:608720
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... OMIM:218000
Adult Krabbe Disease
Peripheral demyelination, CNS demyelination ORPHA:206448
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, CNS hypomyelination, Onion bulb formation OMIM:610532
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Symmetric peripheral demyelination OMIM:169500
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination OMIM:250100
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination, Splenomegaly OMIM:272200
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Demyelinating peripheral neuropathy, Decr... OMIM:609136
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... OMIM:272750
Peho Syndrome
Optic atrophy, Pachygyria, Polymicrogyria, Peripheral dysmyelination OMIM:260565
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... OMIM:162400
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormality of perip... ORPHA:168563
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... ORPHA:320406
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Poor fine motor coordination, Hand tremor, Babinski sign, Frequent falls, Postural tremor, Vocal ... ORPHA:99947
Giant Axonal Neuropathy 1, Autosomal Recessive
Motor axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Sensory axonal n... OMIM:256850
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... OMIM:270550
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Paragangliomas 2
Vocal cord paralysis OMIM:601650
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Progressive spastic paraparesis, Paralysis, Incoordination ORPHA:43
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Molybdenum Cofactor Deficiency, Complementation Group B
Peripheral demyelination, Axonal loss OMIM:252160
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Severe demyelination of the white matter, Optic atrophy, Neutropenia, Throm... ORPHA:79282
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... OMIM:201300
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Snakebite Envenomation
Pseudobulbar paralysis, Paralysis, Respiratory paralysis ORPHA:449285
Glioblastoma
Paralysis ORPHA:360
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:298
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Myoclonus, Paralysis ORPHA:83601
Glutaric Acidemia I
Delayed myelination, Symmetrical progressive peripheral demyelination OMIM:231670
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Machado-Joseph Disease Type 1
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:276241
Molybdenum Cofactor Deficiency, Complementation Group A
Peripheral demyelination, Axonal loss OMIM:252150
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers OMIM:256810
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... ORPHA:276244
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Decreased nerve conduction velocity, Peripheral hypomyelination, Sen... OMIM:618733
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Amyotrophic Lateral Sclerosis
Paralysis, Spasticity ORPHA:803
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Periphera... ORPHA:254930
Inhalational Botulism
Paralysis ORPHA:254504
Japanese Encephalitis
Hypertonia, Opisthotonus, Respiratory paralysis, Pill-rolling tremor, Myoclonus, Weakness due to ... ORPHA:79139
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Sensory axonal neuropathy, Abnormal motor nerve conduction veloc... ORPHA:466768
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Skin ras... ORPHA:542323
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurofibromas, Leukodystrophy, Delayed myelination, Peripheral demyelination OMIM:619475
Porphyria, Acute Intermittent
Paralysis, Respiratory paralysis OMIM:176000
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocity, Onion bulb formation ORPHA:320375
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:101085
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Paralysis, Myoclonus OMIM:203700
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Clumsiness, Ankle clonus, Knee clonus, Tongue fasciculations, Vocal cord paralysis OMIM:211530
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy ORPHA:255210
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Hyperkalemic Periodic Paralysis
Hypertonia, Cerebral palsy, Periodic hyperkalemic paralysis, Fasciculations ORPHA:682
Poliomyelitis
Paraparesis, Fasciculations, Hyperkinetic movements, Paralysis ORPHA:2912
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Periodic hypokalemic paresis, Tremor, Paralysis, Tetraplegia ORPHA:79102
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Hypertonia, Rigidity, Hemiparesis, Spasticity, Paralysis, Tetraplegia ORPHA:2396
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity ORPHA:477817
Cockayne Syndrome B
Abnormal peripheral myelination, Decreased nerve conduction velocity, Splenomegaly, Patchy demyel... OMIM:133540
Andersen-Tawil Syndrome
Periodic paralysis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis ORPHA:37553
Cockayne Syndrome A
Abnormal peripheral myelination, Decreased nerve conduction velocity, Splenomegaly, Patchy demyel... OMIM:216400
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis ORPHA:94080
Tick-Borne Encephalitis
Hyperkinetic movements, Tremor, Speech apraxia, Paralysis, Incoordination, Tongue fasciculations ORPHA:297
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... ORPHA:85436
Rift Valley Fever
Paraparesis, Paralysis, Decerebrate rigidity, Hemiparesis ORPHA:319251
Charcot-Marie-Tooth Disease Type 4C
Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Facial paralysis,... ORPHA:99949
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Chronic axonal neuropathy, Peripheral hypomyelination OMIM:612780
Bohring-Opitz Syndrome
Gray matter heterotopia, Delayed peripheral myelination OMIM:605039
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Myoclonus, Vocal cord paralysis, Spasticity ORPHA:500144
Paragangliomas 3
Vocal cord paralysis OMIM:605373
Gitelman Syndrome
Ataxia, Paralysis OMIM:263800
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Paragangliomas 1
Vocal cord paralysis OMIM:168000
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings ORPHA:99956
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hypertonia, Azoospermia, Limb ataxia, Spastic paraplegia, Paralysis, Oculomotor apraxia ORPHA:2072
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis ORPHA:261
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis ORPHA:276621
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Vocal cord paralysis OMIM:617799
Arnold-Chiari Malformation Type I
Babinski sign, Progressive cerebellar ataxia, Vocal cord paralysis, Gait ataxia ORPHA:268882
Pineoblastoma
Paralysis ORPHA:251909
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
African Trypanosomiasis
Hemiparesis, Tremor, Choreoathetosis, Involuntary movements, Paralysis, Fasciculations, Abnormal ... ORPHA:3385
Gitelman Syndrome
Paralysis ORPHA:358
Glossopharyngeal Neuralgia
Vocal cord paralysis ORPHA:221098
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis ORPHA:29072
Choreoacanthocytosis
Splenomegaly, Peripheral axonal neuropathy, Abnormal erythrocyte enzyme level, Acanthocytosis, De... ORPHA:2388
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Schinzel-Giedion Syndrome
Hypertonia, Vocal cord paralysis, Spasticity ORPHA:798
Degcags Syndrome
Vocal cord paralysis OMIM:619488
Williams-Beuren Syndrome
Incoordination, Vocal cord paralysis, Poor coordination OMIM:194050

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 Litaf

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 Litaf.

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

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MGI Allele Allele Type Produced
Litaftm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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