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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
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601098

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... OMIM:118200
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo... OMIM:180800
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... OMIM:614895
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Subacute Inflammatory Demyelinating Polyneuropathy
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Leukocytosis, Increased circu... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:145900
Null Syndrome
Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination ORPHA:280234
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601098
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul... OMIM:607706
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Horner Syndrome, Congenital
Paralysis OMIM:143000
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination, Acanthocytosis OMIM:200100
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... ORPHA:101097
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:604563
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Peripheral demyelination OMIM:618279
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Charcot-Marie-Tooth Disease, Type 4B1
Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Peripheral axonal atrophy,... OMIM:609260
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation OMIM:618184
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination OMIM:249900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Krabbe Disease
CNS demyelination, Optic atrophy, Peripheral demyelination, Autoimmune thrombocytopenia OMIM:245200
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Axonal degeneration, Peripheral hypomyelination, Peripheral demye... OMIM:604168
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation OMIM:615035
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination OMIM:616287
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Variegate Porphyria
Paralysis OMIM:176200
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Periphe... OMIM:600882
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Peripheral demyelination OMIM:221770
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Tangier Disease
Splenomegaly, Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination OMIM:205400
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607831
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Peripheral demyelination, Leukodystrophy OMIM:614877
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Spasticity OMIM:310465
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Onion bulb formation, Facial palsy OMIM:607684
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601455
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Peripheral demyelination OMIM:609033
Charcot-Marie-Tooth Disease, Type 4B3
Myelin outfoldings, Onion bulb formation OMIM:615284
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:607250
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Leukodystrophy OMIM:169500
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Axonal degeneration, Onion bulb formation, Decreased number of pe... OMIM:302800
Multiple Sulfatase Deficiency
Splenomegaly, CNS demyelination, Peripheral demyelination OMIM:272200
Peho Syndrome
Pachygyria, Optic atrophy, Polymicrogyria, Peripheral dysmyelination OMIM:260565
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Hepatosplenomegaly, Peripheral hypomyelin... OMIM:609136
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ... OMIM:256850
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Facial diplegia, Onion bulb forma... OMIM:218000
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Vocal cord paralysis, Hand tremor, Poor fine motor coordination, ... ORPHA:99947
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:99948
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination OMIM:250100
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... OMIM:271245
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Glioblastoma
Paralysis ORPHA:360
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Severe demyelination of the white matter, Megaloblastic anemia, Optic atrophy, Neutropenia, Perip... ORPHA:79282
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination ORPHA:168563
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Peripheral demyelination OMIM:252160
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration ORPHA:90103
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Peripheral demyelination OMIM:252150
Acute Lung Injury
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Abnormality of ... ORPHA:178320
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Chronic axonal neuropathy OMIM:162400
Machado-Joseph Disease Type 3
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276244
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... OMIM:208920
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:298
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mitochondrial swelling, Vocal cord paralysis ORPHA:397744
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Hypermyelinat... OMIM:270550
Amyotrophic Lateral Sclerosis
Spasticity, Paralysis ORPHA:803
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop... ORPHA:254930
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthotonus, Choreoathetosis,... ORPHA:79139
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In... ORPHA:158061
Inhalational Botulism
Paralysis ORPHA:254504
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Abnormalit... ORPHA:540
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed myelination, Neurofibroma, Peripheral demyelination, Leukodystrophy OMIM:619475
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... ORPHA:542323
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations ORPHA:682
Congenital Myopathy 15
Vocal cord paralysis OMIM:620161
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers OMIM:201300
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... ORPHA:3243
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination ORPHA:255210
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Sensory axonal neuropathy, Peripheral hypomyelination OMIM:618733
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropa... ORPHA:466768
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Knee clonus, Trunc... OMIM:211530
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... ORPHA:101085
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Poliomyelitis
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis ORPHA:2912
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Onion bulb formation, Optic neuropathy ORPHA:320375
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis ORPHA:94080
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Simplified gyral pattern, Peripheral demyelination OMIM:220111
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasciculations ORPHA:297
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Cockayne Syndrome B
Abnormal peripheral myelination, Splenomegaly, Optic atrophy, Peripheral dysmyelination, Patchy d... OMIM:133540
Cockayne Syndrome A
Abnormal peripheral myelination, Splenomegaly, Optic atrophy, Peripheral dysmyelination, Patchy d... OMIM:216400
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Vocal cord paralysis, Myoclonus ORPHA:500144
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Facial paralysis, Optic atrophy, Demyelin... ORPHA:99949
Bohring-Opitz Syndrome
Gray matter heterotopia, Delayed peripheral myelination OMIM:605039
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis OMIM:203700
Gitelman Syndrome
Ataxia, Paralysis OMIM:263800
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Spastic paraplegia, Limb ataxia, Azoospermia, Hypertonia, 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
Charcot-Marie-Tooth Disease Type 4B2
Myelin outfoldings, Optic atrophy ORPHA:99956
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis ORPHA:276621
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers OMIM:256810
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Vocal cord paralysis, Hyperkinetic movements, Athetoid cerebral palsy OMIM:617799
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Babinski sign, Vocal cord paralysis, Gait ataxia ORPHA:268882
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Pineoblastoma
Paralysis ORPHA:251909
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Glossopharyngeal Neuralgia
Vocal cord paralysis ORPHA:221098
African Trypanosomiasis
Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Hemiparesis, Choreoath... ORPHA:3385
Gitelman Syndrome
Paralysis ORPHA:358
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis ORPHA:29072
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Acanthocyto... ORPHA:2388
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347
Schinzel-Giedion Syndrome
Spasticity, Hypertonia, Vocal cord paralysis ORPHA:798
Degcags Syndrome
Cryptorchidism, Vocal cord paralysis OMIM:619488
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Williams-Beuren Syndrome
Poor coordination, Vocal cord paralysis, Incoordination 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.

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

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