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Gene: Dlgap2 MGI:2443181

Gene Summary

Name:

DLG associated protein 2

Synonyms:

SAP90/PSD-95-associated protein 2, DAP2, Sapap2, 6430596N04Rik, PSD-95/SAP90-binding protein 2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased lymphocyte cell number	Dlgap2^{em1(IMPC)Mhzh}	HOM	Early adult	6.54×10^-11
increased neutrophil cell number	Dlgap2^{em1(IMPC)Mhzh}	HOM	Early adult	1.84×10^-11
increased fasting circulating glucose level	Dlgap2^{em1(IMPC)Mhzh}	HOM	Early adult	2.10×10^-08
increased eosinophil cell number	Dlgap2^{em1(IMPC)Mhzh}	HOM	Early adult	4.47×10^-11
decreased locomotor activity	Dlgap2^{em1(IMPC)Mhzh}	HOM	Early adult	4.00×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dlgap2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dlgap2 (0 diseases)
Human diseases predicted to be associated with Dlgap2 (275 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dlgap2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 88	Eosinophilia	OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency 40	Lymphopenia	OMIM:616433
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Immunodeficiency 8	Lymphopenia	OMIM:615401
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Immunodeficiency 18	Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Autism, Susceptibility To, 20	Impaired social interactions, Attention deficit hyperactivity disorder	OMIM:618830
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Immunodeficiency 7	Hypereosinophilia	OMIM:615387
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Halothane Hepatitis	Eosinophilia	OMIM:234350
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Kimura Disease	Eosinophilia	ORPHA:482
Intellectual Developmental Disorder, Autosomal Recessive 66	Aggressive behavior, Attention deficit hyperactivity disorder, Shyness	OMIM:618221
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Immunodeficiency 19	Lymphopenia	OMIM:615617
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,...	OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp...	ORPHA:169154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Difficulty walking	OMIM:253600
Wells Syndrome	Eosinophilia	ORPHA:901
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:601859
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly...	OMIM:619802
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Lymphopenia	OMIM:247630
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Unsteady gait	OMIM:618092
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia	OMIM:600496
Asperger Syndrome, X-Linked, Susceptibility To, 2	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:300494
Asperger Syndrome, Susceptibility To, 1	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior	OMIM:608631
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni...	ORPHA:486
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Eosinophilia	OMIM:618282
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis	OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:603909
Cinca Syndrome	Eosinophilia, Anemia, Leukocytosis, Hepatosplenomegaly	OMIM:607115
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno...	ORPHA:331206
Immunodeficiency 49	Eosinophilia, Lymphopenia	OMIM:617237
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Type I diabetes mell...	OMIM:304790
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:615285
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly	ORPHA:169160
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eosinophilia, Cutaneous abscess	OMIM:147060
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia	OMIM:618523
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia	ORPHA:169079
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Pancytopenia, Unsteady gait...	OMIM:159550
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Pgm3-Cdg	Cutaneous abscess, Ataxia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia ...	ORPHA:443811
Immunodeficiency 105	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf...	OMIM:619924
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count	OMIM:243700
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia	OMIM:610582
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Neutropenia	OMIM:266130
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ...	OMIM:602450
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Folate Malabsorption, Hereditary	Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Omenn Syndrome	Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Childhood Disintegrative Disorder	Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec...	ORPHA:168782
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly	OMIM:619164
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio...	ORPHA:911
Eosinophilic Gastroenteritis	Eosinophilia, Anemia, Leukocytosis	ORPHA:2070
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Roifman Syndrome	Eosinophilia, Splenomegaly	OMIM:616651
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an...	ORPHA:444463
Hereditary Folate Malabsorption	Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:859
Agammaglobulinemia 10, Autosomal Dominant	Absent circulating B cells, Type I diabetes mellitus, Transient neutropenia	OMIM:619707
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia	OMIM:618858
Immunodeficiency 23	Ataxia, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia	OMIM:615816
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Spinocerebellar Ataxia, Autosomal Recessive 23	Ataxia, Neutropenia	OMIM:616949
Immunodeficiency 95	Lymphopenia	OMIM:619773
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop...	OMIM:614470
Early-Onset Schizophrenia	Cognitive impairment, Abnormal emotion/affect behavior, Anxiety, No social interaction, Lack of p...	ORPHA:96369
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis	ORPHA:2902
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm...	OMIM:102700
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ...	OMIM:619846
Late-Onset Isolated Acth Deficiency	Eosinophilia, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Type I diabetes mellitus, Lethargy	ORPHA:199299
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Anxiety, Poor eye contact, Abnormal social behavior	ORPHA:444002
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Lymphopenia	OMIM:617425
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly	OMIM:617388
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Ataxia, Hyperglycemia	OMIM:618970
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph...	ORPHA:3261
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Immunodeficiency 31C	Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus	OMIM:614162
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Lymphopenia, Neutropenia	ORPHA:2688
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Iga Pemphigus	Cutaneous abscess, Eosinophilia	ORPHA:555905
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Female Restricted Epilepsy With Intellectual Disability	Anxiety, Hyperactivity, Aggressive behavior, Abnormal social behavior	ORPHA:101039
Transient Neonatal Diabetes Mellitus	Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ...	ORPHA:99886
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal...	OMIM:618986
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absen...	OMIM:619705
Cystic Echinococcosis	Eosinophilia, Abscess, Splenic cyst, Peritoneal abscess	ORPHA:400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Eosinophilic Granulomatosis With Polyangiitis	Gait disturbance, Eosinophilia	ORPHA:183
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, ...	ORPHA:508533
Wiskott-Aldrich Syndrome	Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr...	OMIM:301000
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Diabetes And Deafness, Maternally Inherited	Unsteady gait, Type II diabetes mellitus, Hyperglycemia	OMIM:520000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia	ORPHA:277
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Alveolar Echinococcosis	Cutaneous abscess, Ataxia, Abnormal spleen morphology, Eosinophilia, Anemia, Liver abscess	ORPHA:284
Immunodeficiency 44	Lymphopenia	OMIM:616636
Ataxia-Telangiectasia	Ataxia, Type II diabetes mellitus, Lymphopenia, Gait disturbance, Diabetes mellitus	ORPHA:100
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,...	OMIM:301078
Systemic Lupus Erythematosus 17	Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis	OMIM:618857
Dopa-Responsive Dystonia	Agoraphobia, Abnormal social behavior, Anxiety, Panic attack, Fatigable weakness, Emotional labil...	ORPHA:255
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist...	OMIM:262190
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Immunodeficiency 85 And Autoimmunity	Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu...	OMIM:619510
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h...	ORPHA:3226
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno...	ORPHA:3260
Necrotizing Enterocolitis	Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Lethargy, Thrombocytopenia, Hyperglycemia	ORPHA:391673
Immunodeficiency 36	Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of...	OMIM:616005
Scleroderma	Hypereosinophilia	ORPHA:801
Transcobalamin Ii Deficiency	Ataxia, Macrocytic anemia, Pancytopenia, Lethargy, Neutropenia, Reticulocytopenia	OMIM:275350
Incontinentia Pigmenti	Gait disturbance, Eosinophilia	ORPHA:464
Lymphangiectasia, Intestinal	Lymphopenia	OMIM:152800
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Hsd10 Disease	Abnormal social behavior	ORPHA:391417
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Leukocytosis, Leukopenia, Diabetes mellitus, Lethargy	ORPHA:36238
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell mo...	ORPHA:760
Incontinentia Pigmenti	Eosinophilia, Leukocytosis	OMIM:308300
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Mody	Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Elevated hemoglobin A1c, Gly...	ORPHA:552
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia	OMIM:619752
Nephrotic Syndrome, Type 14	Hypoglycemia, Ataxia, Lymphopenia	OMIM:617575
Thrombocytopenia-Absent Radius Syndrome	Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Igg4-Related Pachymeningitis	Eosinophilia	ORPHA:449427
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos...	OMIM:242700
Early-Onset Autosomal Dominant Alzheimer Disease	Dementia, Semantic dementia, Memory impairment, Abnormal social behavior	ORPHA:1020
Macrocephaly/Autism Syndrome	Lymphopenia, Splenomegaly	OMIM:605309
Coccidioidomycosis	Granuloma, Eosinophilia, Abscess, Abnormality of the spleen	ORPHA:228123
Ataxia-Telangiectasia	Glucose intolerance, Ataxia, Inability to walk, Lymphopenia, Progressive cerebellar ataxia, Hypop...	OMIM:208900
Lamb-Shaffer Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:530983
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Brain abscess, Neutrophilia	ORPHA:54251
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia	OMIM:619644
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyp...	ORPHA:2298
Relapsing Fever	Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:91547
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl...	ORPHA:276
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmu...	OMIM:613179
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
Immunodeficiency 55	Neutropenia, Lymphopenia, Absent natural killer cells	OMIM:617827
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Lymphopenia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Diabetes ...	OMIM:616541
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu...	OMIM:618935
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope...	OMIM:600802
Childhood Absence Epilepsy	Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior	ORPHA:64280
Ebola Hemorrhagic Fever	Leukopenia, Thrombocytopenia, Lymphopenia, Lethargy	ORPHA:319218
Icf Syndrome	Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt...	ORPHA:906
Schimke Immunoosseous Dysplasia	Lymphopenia, Thrombocytopenia, Pancytopenia, Waddling gait, Neutropenia, Anemia, Abnormal T cell ...	OMIM:242900
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis	OMIM:617099
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr...	ORPHA:508542
Adult-Onset Still Disease	Bone marrow hypocellularity, Neutrophilia, Leukocytosis, Splenomegaly	ORPHA:829
Sarcoidosis	Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell count	ORPHA:797
Igg4-Related Kidney Disease	Eosinophilia	ORPHA:449395
Dyskeratosis Congenita, Autosomal Dominant 1	Ataxia, Lymphopenia, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thrombocytopenia	OMIM:127550
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Igg4-Related Ophthalmic Disease	Eosinophilia	ORPHA:449563
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly	OMIM:616100
48,Xxxy Syndrome	Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Abnormal aggressive,...	ORPHA:96263
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf...	ORPHA:35078
Cushing Disease	Lymphopenia, Leukocytosis, Impaired glucose tolerance, Diabetes mellitus, Decreased eosinophil count	ORPHA:96253
Mirage Syndrome	Lymphopenia, Leukopenia, Hypoglycemia, Hypoplastic spleen, Anemia, Thrombocytopenia	OMIM:617053
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Metachromatic Leukodystrophy, Adult Form	Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Emotional lab...	ORPHA:309271
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Ataxia, Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, ...	OMIM:615688
Cartilage-Hair Hypoplasia	Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation...	OMIM:250250
Metachromatic Leukodystrophy, Juvenile Form	Emotional lability, Progressive psychomotor deterioration, Abnormal social behavior	ORPHA:309263
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,...	OMIM:612541
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Abscess, Neutrophilia, Splenomegaly	OMIM:612852
Tropical Endomyocardial Fibrosis	Eosinophilia, Splenomegaly	ORPHA:75565
Sweet Syndrome	Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le...	ORPHA:3243
Primary Intestinal Lymphangiectasia	Anemia, Lymphopenia, Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ eff...	ORPHA:90362
Whim Syndrome	Limb ataxia, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia	ORPHA:51636
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly	OMIM:617591
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune...	ORPHA:391487
Viss Syndrome	Hypereosinophilia	OMIM:619472
Fg Syndrome Type 1	Attention deficit hyperactivity disorder, Abnormal social behavior	ORPHA:93932
Prader-Willi Syndrome Due To Translocation	Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Attention deficit hyperactivity ...	ORPHA:177907
Leukocyte Adhesion Deficiency Type Ii	Ataxia, Neutrophilia, Leukocytosis, Microcytic anemia, Anemia, Impaired tandem gait	ORPHA:99843
Metachromatic Leukodystrophy, Late Infantile Form	Emotional lability, Abnormal social behavior	ORPHA:309256
Cushing Syndrome Due To Ectopic Acth Secretion	Lymphopenia, Leukocytosis, Impaired glucose tolerance, Diabetes mellitus, Decreased eosinophil count	ORPHA:99889
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Memory impairment, Aggressive behavior, Abnormal cortical gyration, Abnormal social behavior	ORPHA:314647
Wiskott-Aldrich Syndrome, Autosomal Dominant	Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla...	OMIM:600903
Hyper-Igd Syndrome	Hepatosplenomegaly, Neutrophilia, Leukocytosis, Splenomegaly	OMIM:260920
Marburg Hemorrhagic Fever	Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Hypoglycemia, Neutrophilia in presence o...	ORPHA:99826
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia	ORPHA:935
Common Variable Immunodeficiency	Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly	ORPHA:1572
Niemann-Pick Disease Type C	Apathy, Abnormal social behavior, Mental deterioration, Cognitive impairment, Progressive neurolo...	ORPHA:646
Familial Mediterranean Fever	Neutrophilia, Leukocytosis, Splenomegaly	OMIM:249100
Mend Syndrome	Hyperactivity, Aggressive behavior, Abnormal social behavior	ORPHA:401973
Tuberous Sclerosis Complex	Self-injurious behavior, Hyperactivity, Abnormal social behavior, Anxiety, Attention deficit hype...	ORPHA:805
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Dihydropyrimidine Dehydrogenase Deficiency	Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior	ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation	Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior	ORPHA:363958
Yellow Fever	Thrombocytopenia, Neutrophilia, Leukocytosis	ORPHA:99829
Williams Syndrome	Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior	ORPHA:904

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 Dlgap2

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 Dlgap2.

No publications found that use IMPC mice or data for Dlgap2.

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MGI Allele	Allele Type	Produced
Dlgap2^{em1(IMPC)Mhzh}	Deletion	Mice
Dlgap2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dlgap2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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