Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CD300 molecule like family member F
Synonyms:
F730004D16Rik,  IgSF13,  Pigr3,  CLM-1,  LMIR3,  DIgR2,  IREM1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Cd300lf 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 Cd300lf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
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
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... ORPHA:208981
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... ORPHA:98848
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... OMIM:606483
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Demyelinating motor neuropathy, Decr... ORPHA:206594
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... OMIM:118200
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
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
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Null Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... ORPHA:280234
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... OMIM:145900
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
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
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
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Neuromyelitis Optica Spectrum Disorder
Autoimmune antibody positivity, Peripheral demyelination ORPHA:71211
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity OMIM:162500
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy OMIM:311070
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:609311
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... OMIM:247800
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... ORPHA:99953
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Decreased nerve conduction velocity, Peripheral demyelination OMIM:252320
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... ORPHA:98850
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... ORPHA:101097
Bullous Diffuse Cutaneous Mastocytosis
Cardiorespiratory arrest, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Krabbe Disease
Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Optic atrophy, CNS demyelinatio... OMIM:245200
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... OMIM:618184
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Charcot-Marie-Tooth Disease, Type 4D
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased nerve conductio... OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:600882
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Myocarditis, Increased proportion of CD25+ ... ORPHA:2442
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy OMIM:615035
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocity, Perip... OMIM:604168
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Peripheral demyelination, Axonal loss OMIM:617672
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... ORPHA:98856
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Skin ras... ORPHA:542323
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Peripheral demyelination, Axonal loss OMIM:221770
Galloway-Mowat Syndrome 5
Peripheral demyelination OMIM:617731
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Mastocytosis
Asthma, Splenomegaly, Respiratory insufficiency, Mastocytosis, Cough, Chronic leukemia, Acute leu... ORPHA:98292
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity OMIM:613652
Tangier Disease
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Periodontitis, Neutropenia, Recurrent bacterial skin infections, V... ORPHA:167
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
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
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
Hennekam-Beemer Syndrome
Respiratory insufficiency, Pneumonia, Mastocytosis ORPHA:2135
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon... OMIM:604484
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve... ORPHA:90103
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Eczema, Lymphadenitis, H... OMIM:618935
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... OMIM:302800
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Adult Krabbe Disease
Peripheral demyelination, CNS demyelination ORPHA:206448
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... OMIM:218000
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Symmetric peripheral demyelination OMIM:169500
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination OMIM:250100
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, CNS hypomyelination, Onion bulb formation OMIM:610532
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axonal de... OMIM:608720
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Demyelinating peripheral neuropathy, Decr... OMIM:609136
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination OMIM:272200
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... OMIM:162400
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impaired neutrophil ... OMIM:613470
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormal circulating interleukin concentration, Autoimmunity, Antinuclear a... ORPHA:85410
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormality of perip... ORPHA:168563
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Giant Axonal Neuropathy 1, Autosomal Recessive
Motor axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Sensory axonal n... OMIM:256850
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233710
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... OMIM:270550
Molybdenum Cofactor Deficiency, Complementation Group B
Peripheral demyelination, Axonal loss OMIM:252160
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... ORPHA:320406
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233690
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... OMIM:201300
Glutaric Acidemia I
Delayed myelination, Symmetrical progressive peripheral demyelination OMIM:231670
Peho Syndrome
Optic atrophy, Peripheral dysmyelination OMIM:260565
Molybdenum Cofactor Deficiency, Complementation Group A
Peripheral demyelination, Axonal loss OMIM:252150
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dens... OMIM:214500
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... OMIM:306400
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:298
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... ORPHA:2968
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers OMIM:256810
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Severe demyelination of the white matter, Peripheral demyelination ORPHA:79282
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Pemphigus Erythematosus
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... ORPHA:79480
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Periphera... ORPHA:254930
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Sensory axonal neuropathy, Abnormal motor nerve conduction veloc... ORPHA:466768
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurofibromas, Leukodystrophy, Delayed myelination, Peripheral demyelination OMIM:619475
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:101085
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy ORPHA:255210
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocity, Onion bulb formation ORPHA:320375
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Decreased nerve conduction velocity, Peripheral hypomyelination, Decre... OMIM:618733
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
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, Patchy demyelination of sub... OMIM:133540
Cockayne Syndrome A
Abnormal peripheral myelination, Decreased nerve conduction velocity, Patchy demyelination of sub... OMIM:216400
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
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Acrocyanosis OMIM:223900
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings ORPHA:99956
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Splenomegaly ORPHA:567983
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Decreased number of peripheral myelinated nerve... ORPHA:2388

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 Cd300lf

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 Cd300lf.

No publications found that use IMPC mice or data for Cd300lf.

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MGI Allele Allele Type Produced
Cd300lftm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cd300lftm43867(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cd300lftm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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