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Gene: Kif5c MGI:1098269

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Gene Summary

Name:
kinesin family member 5C
Synonyms:
Khc

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Kif5ctm1dIcs HET Early adult 4.92×10-07
decreased lymphocyte cell number Kif5ctm1dIcs HET Early adult 1.43×10-05
increased circulating total protein level Kif5ctm1dIcs HET Early adult 8.91×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Kif5c 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 Kif5c by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 2
OMIM:615282

The table below shows human diseases predicted to be associated to Kif5c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Kimura Disease
Eosinophilia ORPHA:482
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Wells Syndrome
Eosinophilia ORPHA:901
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentra... OMIM:607115
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentratio... ORPHA:2070
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia ORPHA:29073
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia OMIM:615387
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia ORPHA:169160
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis ORPHA:2902
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia ORPHA:39041
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypereosinophilia, Autoimmun... OMIM:617388
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... OMIM:615952
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia OMIM:620443
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Hypereosinophilia ORPHA:449400
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... OMIM:602433
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... OMIM:243700
Immunodeficiency 95
Lymphopenia OMIM:619773
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia OMIM:615816
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, Hypoprote... OMIM:615895
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Facial diplegia OMIM:611890
Netherton Syndrome
Hypereosinophilia OMIM:256500
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyperuricemia, Macrocytic anemia, Hyponatremia, Eosinophilia, Hypercalcemia ORPHA:199299
Immunodeficiency 89 And Autoimmunity
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... OMIM:619632
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia ORPHA:2315
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Splenomegaly, Hypocalcemia OMIM:235255
Immunodeficiency 44
Lymphopenia OMIM:616636
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Splenomegaly, Hypocalcemia ORPHA:1655
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Alveolar Echinococcosis
Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Liver abscess ORPHA:284
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Igg4-Related Pachymeningitis
Elevated circulating C-reactive protein concentration, Eosinophilia ORPHA:449427
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... OMIM:606070
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... ORPHA:760
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia OMIM:274000
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Splenomegaly, Hypoc... OMIM:619991
Coccidioidomycosis
Abnormality of the spleen, Eosinophilia, Granuloma, Abscess ORPHA:228123
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Eosinophilia ORPHA:449563
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating inosi... OMIM:613179
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Sarcoidosis
Leukopenia, Hypercalcemia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemoly... ORPHA:797
Amyotrophic Lateral Sclerosis 2, Juvenile
Delayed somatosensory central conduction time, Abnormal upper motor neuron morphology, Abnormal l... OMIM:205100
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... OMIM:618935
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation OMIM:147060
Pierson Syndrome
Hypoproteinemia OMIM:609049
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Splenomegaly ORPHA:75565
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of anter... ORPHA:276244
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia OMIM:617591
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Juvenile Polyposis Syndrome
Anemia, Brain abscess, Hypoproteinemia ORPHA:2929
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Cushing Disease
Lymphopenia, Decreased eosinophil count, Leukocytosis ORPHA:96253
Viss Syndrome
Hypereosinophilia OMIM:619472
Japanese Encephalitis
Paucity of anterior horn motor neurons, Facial palsy, Decreased motor nerve conduction velocity, ... ORPHA:79139
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Decreased eosinophil count, Leukocytosis ORPHA:99889
Dermatomyositis
Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration ORPHA:221
Cortical Dysplasia, Complex, With Other Brain Malformations 2
OMIM:615282

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 Kif5c

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 Kif5c.

No publications found that use IMPC mice or data for Kif5c.

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
Kif5ctm87138(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kif5ctm1aIcs KO first allele (reporter-tagged insertion with conditional potential) Mice, ES Cells
Kif5ctm1dIcs Deletion allele (post-Flp and Cre with no reporter) Mice
Kif5ctm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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