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Gene: Mfap5 MGI:1354387

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

microfibrillar associated protein 5

Synonyms:

MAGP-2

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 Mfap5 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.

Human diseases associated with Mfap5 (2 diseases)
Human diseases predicted to be associated with Mfap5 (238 diseases)

The table below shows human diseases associated to Mfap5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Aortic Aneurysm, Familial Thoracic 9			OMIM:616166
Familial Thoracic Aortic Aneurysm And Aortic Dissection			ORPHA:91387

The table below shows human diseases predicted to be associated to Mfap5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Whim Syndrome 1	Neutropenia	OMIM:193670
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia	OMIM:615387
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope...	OMIM:304790
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim...	ORPHA:572
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr...	OMIM:607594
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia, Neutropenia	OMIM:250940
Propionic Acidemia	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:606054
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop...	ORPHA:443811
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Congenital Enterovirus Infection	Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia	ORPHA:292
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia	ORPHA:47
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia	OMIM:275350
Barth Syndrome	Hypochromic microcytic anemia, Granulocytopenia, Cyclic neutropenia, Neutropenia	OMIM:302060
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Mitochondrial Complex I Deficiency, Nuclear Type 33	Neutropenia	OMIM:618253
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Diamond-Blackfan Anemia 11	Neutropenia, Anemia of inadequate production	OMIM:614900
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613989
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Felty Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47612
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia	OMIM:242900
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m...	OMIM:614700
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:540
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,...	ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:508542
Immunodeficiency 23	Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Neutropenia	ORPHA:445038
Shwachman-Diamond Syndrome	Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ...	ORPHA:811
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:613990
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251110
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:617303
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:277380
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251100
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
Wolcott-Rallison Syndrome	Lymphocytosis, Iron deficiency anemia, Neutropenia	ORPHA:1667
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia	OMIM:308230
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne...	OMIM:615952
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Mhc Class Ii Deficiency 1	Neutropenia	OMIM:209920
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:90051
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227645
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Neutropenia	ORPHA:79284
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	ORPHA:37042
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen...	OMIM:557000
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia	OMIM:607944
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia	ORPHA:228119
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Leigh Syndrome	Anemia, Neutropenia	ORPHA:506
Vici Syndrome	Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp...	OMIM:242840
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227646
Cohen Syndrome	Neutropenia	ORPHA:193
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia	ORPHA:91547
Revesz Syndrome	Macrocytic anemia, Aplastic anemia, Neutropenia	OMIM:268130
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:436159
Whim Syndrome	Abnormal neutrophil morphology, Lymphopenia, Neutropenia	ORPHA:51636
Trichothiodystrophy	Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia	ORPHA:33364
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia	OMIM:300755
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia	ORPHA:54251
Khan-Khan-Katsanis Syndrome	Anemia, Lymphopenia, Neutropenia	OMIM:618460
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:277400
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil...	OMIM:613179
Cartilage-Hair Hypoplasia	Anemia, Neutropenia	ORPHA:175
Rothmund-Thomson Syndrome	Leukemia, Anemia, Aplastic anemia, Neutropenia	ORPHA:2909
Glycogen Storage Disease Ib	Splenomegaly, Neutropenia	OMIM:232220
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Thrombocytopenia, Megaloblastic anemia, Neutropenia	ORPHA:79282
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Pediatric-Onset Graves Disease	Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Rothmund-Thomson Syndrome Type 1	Leukemia, Anemia, Aplastic anemia, Neutropenia	ORPHA:221008
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Rothmund-Thomson Syndrome Type 2	Leukemia, Anemia, Aplastic anemia, Neutropenia	ORPHA:221016
Hermansky-Pudlak Syndrome	Neutropenia	ORPHA:79430
Pearson Syndrome	Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hypoplastic s...	ORPHA:699
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol...	ORPHA:3261
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:50918
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia	OMIM:617099
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatosplenomegaly, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hypersple...	ORPHA:228426
Zygomycosis	Brain abscess, Splenic abscess, Neutropenia	ORPHA:73263
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Anemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia	ORPHA:79259
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th...	OMIM:620565
Glycogen Storage Disease Ic	Cyclic neutropenia	OMIM:232240
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p...	ORPHA:391487
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Sponastrime Dysplasia	Neutropenia	ORPHA:93357
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia	OMIM:208400
Aortic Aneurysm, Familial Thoracic 9		OMIM:616166
Familial Thoracic Aortic Aneurysm And Aortic Dissection		ORPHA:91387

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 Mfap5

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 Mfap5.

No publications found that use IMPC mice or data for Mfap5.

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.

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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