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Gene: Cd300lf MGI:2442359

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

Order Alleles

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 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, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ... OMIM:620378
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Clusters of axonal regeneration, Onion bu... OMIM:607734
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Abnormal mast ce... ORPHA:98848
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination, Axonal degeneration/regeneration, Onion bulb formation, Segme... OMIM:606483
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Charcot-Marie-Tooth Disease, Type 4A
Axonal degeneration, Hypertrophic nerve changes, Basal lamina onion bulb formation, Decreased num... OMIM:214400
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fiber... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... OMIM:118200
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera... OMIM:180800
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea... OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... OMIM:118220
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Peripheral demyelination OMIM:615185
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Decreased number of periph... OMIM:145900
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Neuromyelitis Optica Spectrum Disorder
Autoimmune antibody positivity, Peripheral demyelination ORPHA:71211
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Null Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, CNS hypomyelination, Peripheral demyelination ORPHA:280234
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers OMIM:608673
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Increased circulating IgG level, Symmetric peripheral demyelinati... ORPHA:206594
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Segmental peripheral demyelination/remyelination, Hypertrophic nerve changes OMIM:601098
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Decreased number of large peripheral myelinated n... OMIM:608340
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Abnormal cranial nerve morphology, Facial palsy, Basal lamina onion bulb for... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Onion bulb formation, Decreased number of peripheral myelinated nerve... OMIM:609311
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukemia, Leukocytosis, Hepatospl... ORPHA:98850
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Clusters... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Axonal degeneration/regeneration, Peripheral axonal atrophy, Onion bulb formation, Decreased numb... OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Axonal degeneration/regeneration, Onion bulb formation, Decreased... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natural killer cell... ORPHA:158061
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera... OMIM:604563
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Eosinophilia, Neutrophilia, Th... OMIM:226990
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Peripheral demyelination OMIM:618279
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis ORPHA:319552
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Onion bulb formation, Axonal loss OMIM:611228
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Onion bulb formation OMIM:608323
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe... OMIM:617087
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regene... OMIM:609260
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating interleukin... ORPHA:70578
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination OMIM:249900
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers OMIM:618184
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Axonal regeneration, Decreased number of large peripheral myelinated ... OMIM:605285
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Myelin outfoldings, Irregular myelin loops OMIM:601382
Krabbe Disease
Optic atrophy, Autoimmune thrombocytopenia, Peripheral demyelination, CNS demyelination OMIM:245200
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Increased circulating interleukin 10 concentration OMIM:613759
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Abnormal circulating interleukin concentration, Arthritis, Synovitis ORPHA:85435
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers ORPHA:497764
Charcot-Marie-Tooth Disease Type 4G
Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:99953
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Peripheral hypomyelination, Peripheral demyelination, Axonal dege... OMIM:604168
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 co... OMIM:620514
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Sweet Syndrome
Increased circulating interleukin 6 concentration, Panniculitis, Acute myeloid leukemia, Chronic ... ORPHA:3243
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy, Onion bulb formation OMIM:615035
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... ORPHA:85410
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Peripheral demyelination, Axonal loss OMIM:617672
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia, Pneumonia OMIM:266265
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Facial diplegia OMIM:616287
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Increased circulating antibody level, Systemic lupu... ORPHA:411593
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Axonal degeneration/regeneration, Peripheral axonal atrophy, Decreased number of peripheral myeli... OMIM:600882
Neutrophilic Dermatosis, Acute Febrile
Anemia, Panniculitis, Increased circulating interleukin 6 concentration, Cystic acne, Acne inversa OMIM:608068
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Peripheral demyelination, Axonal loss OMIM:221770
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Leukodystrophy, Peripheral demyelination OMIM:614877
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Sensory axonal neuropathy, Decreased number of peripheral myelinated nerve f... ORPHA:98856
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... ORPHA:158057
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Onion bulb formation OMIM:607684
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Acute Lung Injury
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A... ORPHA:178320
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:542323
Tangier Disease
Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination OMIM:205400
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, N... ORPHA:540
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Panhypogammaglobulinemia, Pancytopen... ORPHA:79124
Chédiak-Higashi Syndrome
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Periodontitis, Pancytopenia, ... ORPHA:167
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Segmental peripheral demyelination/remyelination, Axonal loss OMIM:601455
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, 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 Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Myelin outfoldings OMIM:615284
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... OMIM:301220
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers OMIM:607250
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Decreased number of peripheral myelinated nerve fibers, Axon... OMIM:604484
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid dermatitis, Gran... OMIM:618935
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Necrobiosis Lipoidica
Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology ORPHA:542592
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Leukodystrophy OMIM:169500
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Asplenia, Nephritis, Coombs-positive hemolytic... OMIM:614034
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Onion bulb formation, Decreased number of peripheral myelinated n... OMIM:302800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Facial diplegia, Axonal degene... OMIM:218000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral hypomyelination, Cerebral dysmyelination, Demyelinating peripheral neuropathy, Dysmyel... OMIM:609136
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Cholecystitis ORPHA:69665
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Axonal dege... OMIM:615490
Charcot-Marie-Tooth Disease Type 4A
Demyelinating peripheral neuropathy, Chronic axonal neuropathy, Decreased number of large periphe... ORPHA:99948
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination OMIM:250100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination ORPHA:48431
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal a... OMIM:613470
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibe... ORPHA:320406
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve f... OMIM:271245
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Increased circulating antibody level, Systemic lupus erythema... ORPHA:48377
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers ORPHA:90103
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec... OMIM:233710
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Motor axonal neuropathy, Facial palsy, Decreased number of peripheral ... OMIM:256850
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec... OMIM:233690
Molybdenum Cofactor Deficiency, Complementation Group B
Peripheral demyelination, Axonal loss OMIM:252160
Peho Syndrome
Optic atrophy, Peripheral dysmyelination OMIM:260565
Molybdenum Cofactor Deficiency, Complementation Group A
Peripheral demyelination, Axonal loss OMIM:252150
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site ORPHA:168563
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Tafro Syndrome
Increased circulating interleukin 6 concentration, Anemia, Leukocytosis, Thrombocytopenia, Spleno... ORPHA:457077
Glutaric Acidemia I
Delayed myelination, Symmetrical progressive peripheral demyelination OMIM:231670
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers OMIM:162400
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
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
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Axo... OMIM:208920
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Periodontitis, Recurrent bacterial skin infections, Leukopenia, Splenom... OMIM:214500
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Spastic Ataxia, Charlevoix-Saguenay Type
Hypermyelinated retinal nerve fibers, Onion bulb formation, Decreased number of large peripheral ... OMIM:270550
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... ORPHA:254930
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec... OMIM:306400
Mitochondrial Neurogastrointestinal Encephalomyopathy
Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Decreased number of large peri... ORPHA:298
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed myelination, Peripheral demyelination, Leukodystrophy, Neurofibroma OMIM:619475
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination ORPHA:255210
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Anemia, Leukocytosis, Enterocolitis, Thrombocy... ORPHA:90051
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers OMIM:201300
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Abnormal myelination, M... ORPHA:466768
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Increased circulating interleukin 6 concentration, Pancreatitis, Acute colitis, Leuk... ORPHA:544482
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:256040
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Anemia, Arthritis, Parotitis, Increased B cell... OMIM:620376
Charcot-Marie-Tooth Disease Type 1F
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Optic nerve hypoplasia, Mixed d... ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Onion bulb formation, Optic neuropathy ORPHA:320375
Castleman Disease
Thrombocytopenia, Increased circulating interleukin 6 concentration, Anemia, Decreased mean corpu... ORPHA:160
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination OMIM:220111
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Peripheral hypomyelination OMIM:618733
Cockayne Syndrome B
Optic atrophy, Patchy demyelination of subcortical white matter, Peripheral dysmyelination, Abnor... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Patchy demyelination of subcortical white matter, Peripheral dysmyelination, Abnor... OMIM:216400
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Demyelinating peripheral neuropathy, Facial paralysis, Decreased number of periphe... ORPHA:99949
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Acrocyanosis OMIM:223900
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Anemia, Le... ORPHA:340
Yellow Fever
Increased circulating interleukin 6 concentration, Skin rash, Acute pancreatitis, Leukocytosis, I... ORPHA:99829
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Myelin outfoldings ORPHA:99956
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers OMIM:256810
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Choreoacanthocytosis
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers ORPHA:2388
Tropical Endomyocardial Fibrosis
Eosinophilia, Increased circulating interleukin 6 concentration, Splenomegaly ORPHA:75565

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.

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
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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