Gene Summary

Name:
macrophage receptor with collagenous structure
Synonyms:
Scara2

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Marcotm2b(EUCOMM)Hmgu HOM Early adult 2.71×10-06
hyperactivity Marcotm2b(EUCOMM)Hmgu HOM   Early adult 1.85×10-05
abnormal gait Marcotm2b(EUCOMM)Hmgu HOM Early adult 1.01×10-11

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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

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

Human diseases caused by Marco 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 Marco by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:605258
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... OMIM:614372
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent bronchitis, Neutropenia, Agamma... OMIM:613501
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Recurrent infection of the gastrointestinal tract, Re... OMIM:608184
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 8
Hyperactivity OMIM:615401
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... OMIM:242850
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... OMIM:613860
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Generalized lymphadenopathy, Recurrent mycobac... OMIM:615978
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... OMIM:209920
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... ORPHA:276
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Decreased circulating to... OMIM:243700
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... OMIM:308230
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... OMIM:616941
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:233710
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Immunodeficiency 20
Recurrent oral herpes, Severe varicella zoster infection, Reduced natural killer cell activity, R... OMIM:615707
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:233690
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chr... OMIM:613496
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... ORPHA:331206
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... OMIM:619693
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity, Decreased proportio... OMIM:614493
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... OMIM:300400
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Otitis media, Splen... OMIM:613179
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... OMIM:601495
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia OMIM:300299
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, ... OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Recurrent viral infec... OMIM:618048
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou... OMIM:147060
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... ORPHA:169090
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent skin infections, Extramedullary hematopoiesis... OMIM:612840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... OMIM:102700
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia OMIM:239500
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... ORPHA:486
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... ORPHA:443811
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:306400
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... OMIM:610984
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections OMIM:609536
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder, Increased circulating thyroglobulin level OMIM:188570
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Hyperactivity OMIM:615924
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Osteomyelitis, Leukocytosis, Recurrent bacterial infections, Recurrent staphylococ... OMIM:116920
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections, Autoimmune hemolytic anemia, Thrombocytopen... OMIM:612783
Immunodeficiency 23
Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Eosinophilia, Increased circulatin... OMIM:615816
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Choreoathetosis, Hyperactivity, Ataxia OMIM:612716
Specific Granule Deficiency 2
Recurrent otitis media, Sepsis, Recurrent bacterial infections, Thrombocytopenia, Recurrent pneum... OMIM:617475
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve... ORPHA:51636
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity OMIM:619470
Hermansky-Pudlak Syndrome 2
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Neutrope... OMIM:608233
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... ORPHA:2968
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia ORPHA:248111
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circulating total IgA, D... OMIM:300972
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Skin rash, Splenomegaly, Recurrent bacterial infections, Arthritis, Meningitis, Uve... ORPHA:36412
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Severe viral infection, Increased inflammatory res... ORPHA:48435
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... OMIM:242840
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Abnormal T cell subset distribution, Decre... ORPHA:221139
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Periodontitis, Hepatomegaly, Hemophagocytosis, Splenomegaly,... OMIM:214500
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Athetosis ORPHA:382
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased p... OMIM:603585
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid h... OMIM:612541
Ch├ędiak-Higashi Syndrome
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Jaundice, Lymphadenopat... ORPHA:167
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Eczema, Lymphadenitis, Recurrent bacterial infections, ... OMIM:615895
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Idiopathic Bronchiectasis
Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia, Recurren... ORPHA:60033
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Eczema, Sepsis, Aplastic anemia, Macrocytic anem... ORPHA:811
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait OMIM:615516
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Unsteady... ORPHA:228360
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hemolyt... OMIM:603903
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Chronic otitis media, Chr... ORPHA:244
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Hyperactivity, Elevat... OMIM:615673
Mirage Syndrome
Lymphopenia, Aspiration pneumonia, Leukopenia, Sepsis, Recurrent urinary tract infections, Recurr... OMIM:617053
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Recurrent bacterial infections, Decreased cir... OMIM:248500
Chromomycosis
Keratitis, Lymphangiectasis, Keratoconjunctivitis sicca, Recurrent bacterial infections ORPHA:182
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Splenomegaly, Pancreatic fibrosis, Recurrent bacterial infections, He... OMIM:232220
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Recurrent fungal infections, Hepatomegaly, Lymphopenia, Necrotizing ... OMIM:619573
X-Linked Creatine Transporter Deficiency
Athetosis, Ataxia, Hyperactivity, Abnormal circulating creatine concentration ORPHA:52503
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Abnormal circulating fatty-acid concentration, Dysmetri... ORPHA:139396
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Periodontitis, Pancreatitis, Enterocolitis, Hepatomegaly, Abnormal myeloid leukocyte morphology, ... ORPHA:79259
Lysinuric Protein Intolerance
Increased circulating antibody level, Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepatic amylo... ORPHA:470
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... ORPHA:247585
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus ORPHA:2176
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Argininemia
Hyperargininemia, Spastic gait, Hyperactivity, Hyperammonemia OMIM:207800
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity OMIM:620047
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Blepharitis, Cheilitis, Recurrent respiratory infections, Eczema, Recurrent bacterial ... ORPHA:2273
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Infection-Related Hemolytic Uremic Syndrome
Abnormality of chemokine secretion, Increased circulating interleukin 6 concentration, Abnormalit... ORPHA:544482
Hereditary Sensory And Autonomic Neuropathy Type 4
Osteomyelitis, Recurrent aspiration pneumonia, Fasciitis, Recurrent Staphylococcus aureus infecti... ORPHA:642

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 Marco

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 Marco.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Marcotm1ktry PMC7263671

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MGI Allele Allele Type Produced
Marcotm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice
Marcotm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Marcotm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Marcotm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Marcotm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Marcotm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Marcotm209635(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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