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Gene: Mgl2 MGI:2385729

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Gene Summary

Name:
macrophage galactose N-acetyl-galactosamine specific lectin 2
Synonyms:
CD301b

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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.

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 33.33% (1 of 3)
Ileum  Section images heterozygote 66.67% (2 of 3)
Prostate gland  Section images heterozygote 33.33% (1 of 3)
Testis  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 33.33% (1 of 3)
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebellum N/A heterozygote 0.0% (0 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 33.33% (1 of 3)
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 3)
Kidney N/A heterozygote 0.0% (0 of 3)
Large intestine N/A heterozygote 33.33% (1 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 66.67% (2 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 33.33% (1 of 3)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Section

7 Images

View images
X-ray

XRay Images Hind Leg and Hip

10 Images

View images

Human diseases caused by Mgl2 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 Mgl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Immunodeficiency 79
Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur... OMIM:619238
Immunodeficiency 18
Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr... OMIM:615615
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 48
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... OMIM:269840
Immunodeficiency 24
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Recurrent viral infections, Severe vari... OMIM:615897
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Recurrent infections OMIM:614493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Decreased proportion of class-switched ... OMIM:619126
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... OMIM:619846
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Increased pro... OMIM:618982
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
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Immunodeficiency 104
Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Lymphadenopa... OMIM:608971
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Recurrent infections, Hepatosplenomegaly, Decreased circulatin... OMIM:618261
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Recurrent opportunistic infections, Recurrent upper respir... ORPHA:277
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 19
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... OMIM:615617
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Persistent EBV viremia, Recurrent sinusi... OMIM:620282
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia... OMIM:618986
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Lymphad... ORPHA:331235
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper r... OMIM:602450
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:612692
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency, Common Variable, 1
Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Decrease... OMIM:607594
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... OMIM:616005
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... ORPHA:217390
Immunodeficiency 68
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor... OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopeni... OMIM:601457
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Abnormally low T cell receptor e... OMIM:618806
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Fo... OMIM:614470
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Activated Pi3K-Delta Syndrome
Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased circulating ant... ORPHA:397596
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Recurrent bacterial infections, Increased circulating IgM ... OMIM:606843
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... OMIM:301078
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Monocytosis, Decreased circ... OMIM:619281
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent bacterial meningitis, Recur... OMIM:300400
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Complete or near-complete absence of specif... OMIM:607271
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... OMIM:613179
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 32A
Lymphadenitis, BCGitis, Lymphadenopathy, Recurrent infections, Granuloma OMIM:614893
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent upper respiratory tract infections, ... OMIM:618944
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... OMIM:618108
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... OMIM:615122
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 70
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... OMIM:618969
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgA level, Abnormal ci... OMIM:618048
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent c... ORPHA:169160
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center, ... OMIM:608184
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Splenomega... OMIM:308240
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... OMIM:614069
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Persistent ... OMIM:613011
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Lymphadenopathy, Increased circulating IgM level, Recurrent bac... OMIM:605258
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Au... ORPHA:572
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent bacterial i... OMIM:240500
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Invasive f... ORPHA:98813
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, Persistent EBV viremia, T lymp... OMIM:619510
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Rec... OMIM:610163
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Iron deficiency anemia, Absent microvilli on the surface of peripheral ... OMIM:301000
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... OMIM:601495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Severe cytomegalovirus infection, T l... OMIM:619313
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Abnormal ly... OMIM:612840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... ORPHA:83471
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, Leukocytosis, BCGosis, Decreased proportion of cla... OMIM:619652
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:601859
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Spleno... OMIM:616100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphade... OMIM:614700
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Microcytic anemia OMIM:618852
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... OMIM:209950
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no... ORPHA:543
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Re... OMIM:618935
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 54
Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphadenopathy, Redu... OMIM:609981
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... ORPHA:158048
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Recurrent bacterial infections, Increased circulating IgM level, Recurrent upper... OMIM:608106
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Cervical lymphaden... ORPHA:2686
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... OMIM:618394
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu... OMIM:615966
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia... OMIM:308230
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection... OMIM:612783
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:158061
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ... ORPHA:507
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Recurrent pha... ORPHA:47612
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:617765
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Meningitis, Anemia OMIM:607115
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... ORPHA:54251
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Recurrent pneumoni... ORPHA:508533
Immunodeficiency 22
Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulating total IgM, D... OMIM:615758
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... ORPHA:169090
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... ORPHA:100026
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... ORPHA:436159
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Asplenia, Cervical lymphaden... OMIM:614034
Immunodeficiency 55
Absent natural killer cells, Recurrent infections, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar... ORPHA:293978
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmune throm... ORPHA:391487
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Lym... OMIM:304790
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... ORPHA:221139
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:614162
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... ORPHA:508542
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Recurrent infections, Anemia, Lymphadenopathy, Increased circulating antibody level... OMIM:617591
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... OMIM:260920
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Splenomegaly, De... ORPHA:1572
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Recurrent infectio... OMIM:617718
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent bronchitis, Dysgammagl... OMIM:251260
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Recurrent infections... OMIM:619381
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Recurrent infections... OMIM:620005
Meige Disease
Recurrent bacterial skin infections, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent herpes, Recurrent... ORPHA:125
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... OMIM:208900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Perianal abs... OMIM:301074
Alg12-Cdg
Recurrent respiratory infections, Recurrent ear infections, Abnormal circulating IgA level, Parti... ORPHA:79324
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Anemia, Leu... ORPHA:50918
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617

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 Mgl2

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 Mgl2.

No publications found that use IMPC mice or data for Mgl2.

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
Mgl2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mgl2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mgl2tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mgl2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Mgl2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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