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 Dorso Ventral

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

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 bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... OMIM:240500
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... OMIM:615978
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Griscelli Syndrome, Type 2
Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom... OMIM:607624
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... ORPHA:98813
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pneumonia, Impaired T... OMIM:613179
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... OMIM:606367
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu... OMIM:615468
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ... OMIM:618048
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... OMIM:147060
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Recurrent mycobacterial in... ORPHA:169090
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... OMIM:102700
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple... OMIM:603554
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... OMIM:614172
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... OMIM:615816
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection... OMIM:612783
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... OMIM:261600
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... ORPHA:51636
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a... OMIM:271980
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,... OMIM:300972
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebellar ataxia ORPHA:248111
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:3077
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Meningitis, Splenomegaly, Uveitis, Lymphadenopathy, Arthri... ORPHA:36412
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ear infections, Recurrent ... ORPHA:221139
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... OMIM:612541
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Re... OMIM:615895
Idiopathic Bronchiectasis
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... ORPHA:60033
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infarction, Recurre... OMIM:603903
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Bronchiectasis,... ORPHA:244
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Recurrent bacterial infections, Leu... OMIM:617053
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Recurrent viral i... OMIM:242840
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Self-mutilation ORPHA:52503
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... OMIM:248500
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Lymphangiectasis ORPHA:182
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Gout, Recurrent bacter... OMIM:232220
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... ORPHA:171
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Lysinuric Protein Intolerance
Hepatomegaly, Glomerulonephritis, Thrombocytopenia, Decreased circulating antibody level, Hepatos... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Chronic neutropenia, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Recurren... ORPHA:79259
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Hyperargininemia, Spastic gait OMIM:207800
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus ORPHA:2176
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... ORPHA:2273
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... ORPHA:544482
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... 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
Marcotm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Marcotm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Marcotm209635(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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