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:
Pigr3,  CLM-1,  IgSF13,  IREM1,  F730004D16Rik,  DIgR2,  LMIR3

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, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye... OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... ORPHA:208981
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Optic atrophy, Peripheral demyelination OMIM:165200
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Splenomegaly, Abnor... ORPHA:98848
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
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 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
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
Peripheral demyelination, Motor conduction block, Abnormal nerve conduction velocity, Decreased n... ORPHA:2932
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Null Syndrome
Peripheral demyelination, Demyelinating peripheral neuropathy, Decreased nerve conduction velocit... ORPHA:280234
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
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ... OMIM:608673
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Decreased motor nerve conduction velocity, Axonal regeneration, Decre... OMIM:605285
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal lamina onion ... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Neuromyelitis Optica Spectrum Disorder
Autoimmune antibody positivity, Peripheral demyelination ORPHA:71211
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decr... OMIM:609311
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:604563
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Demyelinating peripheral neuro... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... OMIM:609260
Krabbe Disease
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atrophy, Peripheral demye... OMIM:245200
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Cyanosis, Peripheral demyelination OMIM:252320
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cardiorespiratory arrest, Cutaneous mastocytosis ORPHA:280785
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Maculopapular exanthema, Pan... ORPHA:98850
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Axonal degeneration/regener... OMIM:600882
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Segmental peripheral demyelination/remyelination, Decreased ne... OMIM:601455
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Peripheral axonal degenera... OMIM:604168
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Increased propor... ORPHA:2442
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers ORPHA:497764
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Maculopapular Cutaneous Mastocytosis
Dyspnea, Rhinitis, Cutaneous mastocytosis ORPHA:79457
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
Axonal loss, Peripheral demyelination OMIM:617672
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops OMIM:601382
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Peripheral demyelination OMIM:618237
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Aregenerative Anemia
Erythroid hypoplasia, Dyspnea, Abnormality of interleukin secretion, Decreased proportion of CD4-... ORPHA:101096
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Peripheral demyelination OMIM:221770
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Galloway-Mowat Syndrome 5
Peripheral demyelination OMIM:617731
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Increased serum interferon-gamma level, Abnormality of interleukin secretion, Increase... ORPHA:542323
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Mastocytosis
Chronic leukemia, Cough, Respiratory insufficiency, Asthma, Splenomegaly, Mastocytosis, Acute leu... ORPHA:98292
Acute Lung Injury
Dyspnea, Respiratory distress, Abnormality of serum cytokine level, Pneumonia, Abnormality of tum... ORPHA:178320
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Adult Acute Respiratory Distress Syndrome
Dyspnea, Abnormal serum interleukin level, Pneumonia, Abnormality of tumor necrosis factor secret... ORPHA:70578
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Diffuse Cutaneous Mastocytosis
Erythroderma, Leukemia, Cutaneous mastocytosis ORPHA:79456
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Tangier Disease
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination OMIM:220111
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Skin rash, Vacuolated lymphocytes, Ab... ORPHA:167
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Peripheral hypomyelination, Demyelinating peripheral neuropathy, Cerebr... OMIM:609136
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
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination OMIM:609033
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells, Decreased number of peripheral myelinat... OMIM:604484
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action potentials, Dec... ORPHA:90103
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Hemolytic anemia, Lymphadenitis, Pleural effusion, Lymphopenia, Impaired oxi... OMIM:618935
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:302800
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul... OMIM:218000
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Decreased number of large... OMIM:162400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Symmetric peripheral demyelination OMIM:169500
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Leukocytosis, Chr... ORPHA:3243
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... OMIM:615490
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Facial palsy, Motor axonal neuropathy, Decreased number of peripheral ... OMIM:256850
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal serum interleukin level, Increased serum interferon-gamma level, Autoimmunity, Rheumatoi... ORPHA:85410
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Leukodystrophy OMIM:610532
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Cholecy... OMIM:613470
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hypermyel... OMIM:270550
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... ORPHA:320406
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Impaired oxidative burs... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Impaired oxidative burs... OMIM:233710
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Peripheral demyelination OMIM:252160
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... ORPHA:168563
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Impaired oxidative burs... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Eczematoid dermatitis, Lymphadenitis, Impaired oxidative burs... OMIM:306400
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Peripheral demyelination OMIM:252150
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Spontaneous, recurrent epistaxis, Impaired neutrophil ... OMIM:214500
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Demyelina... ORPHA:298
Peho Syndrome
Peripheral dysmyelination, Optic atrophy OMIM:260565
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Peripheral axo... OMIM:208920
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Severe demyelination of the white matter ORPHA:79282
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers OMIM:256810
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... ORPHA:254930
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal motor nerve conduction velocity, Abnormal myelination, Sensory axonal neuropathy, Motor ... ORPHA:466768
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Decreased number of large peripheral myelinated nerve fibers, O... ORPHA:101085
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination ORPHA:255210
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy ORPHA:320375
East Syndrome
Peripheral hypomyelination, Peripheral axonal neuropathy ORPHA:199343
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Peripheral hypomyelination, Decreased nerve con... OMIM:618733
Cockayne Syndrome A
Peripheral dysmyelination, Patchy demyelination of subcortical white matter, Decreased nerve cond... OMIM:216400
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Cockayne Syndrome B
Peripheral dysmyelination, Patchy demyelination of subcortical white matter, Decreased nerve cond... OMIM:133540
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Charcot-Marie-Tooth Disease Type 4C
Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropathy, Onion bulb formati... ORPHA:99949
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
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, Peripheral axonal neuropathy, Decreased number ... 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
Cd300lftm43867(L1L2_st1) Targeting vectors
Cd300lftm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cd300lftm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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