Gene Summary

Name:
DLG associated protein 2
Synonyms:
SAP90/PSD-95-associated protein 2,  PSD-95/SAP90-binding protein 2,  6430596N04Rik,  DAP2,  Sapap2

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
hypoactivity Dlgap2em1(IMPC)Mhzh HOM   Early adult 4.00×10-05
decreased lymphocyte cell number Dlgap2em1(IMPC)Mhzh HOM Early adult 6.54×10-11
increased eosinophil cell number Dlgap2em1(IMPC)Mhzh HOM   Early adult 4.47×10-11
increased fasting circulating glucose level Dlgap2em1(IMPC)Mhzh HOM Early adult 2.10×10-08
increased neutrophil cell number Dlgap2em1(IMPC)Mhzh HOM Early adult 1.84×10-11

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
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
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic 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
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Halothane Hepatitis
Eosinophilia OMIM:234350
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Kimura Disease
Eosinophilia ORPHA:482
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 19
Lymphopenia OMIM:615617
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Eosinophilia OMIM:253600
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
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Gray matter heterotopia, Abnormality of neuronal migration, Poly... OMIM:604317
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Unsteady gait, Eosinophilia OMIM:618092
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Typ... OMIM:304790
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia OMIM:618523
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Hypoplastic a... OMIM:159550
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Ataxia OMIM:266130
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Abnormal social behavior, Gait disturb... ORPHA:255
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia ORPHA:353298
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Ataxia, Abscess, Eosinophilia OMIM:615816
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabilit... ORPHA:248111
Early-Onset Schizophrenia
Shyness, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional lability, ... ORPHA:96369
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Ataxia OMIM:616949
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Late-Onset Isolated Acth Deficiency
Lethargy, Hypoglycemia, Normocytic anemia, Type I diabetes mellitus, Eosinophilia, Macrocytic anemia ORPHA:199299
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly OMIM:617388
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Netherton Syndrome
Hypereosinophilia OMIM:256500
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Leukopenia, Athetosis OMIM:229050
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes mellitus OMIM:598500
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus OMIM:614162
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia OMIM:604250
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Aggressive behavior, Hyperactivity ORPHA:101039
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Eosinophilia ORPHA:183
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia ORPHA:391417
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Ataxia-Telangiectasia
Gait disturbance, Lymphopenia, Ataxia, Type II diabetes mellitus, Diabetes mellitus ORPHA:100
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Ataxia, Anemia, Liver abscess, Eosinophilia ORPHA:284
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T ... ORPHA:760
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Abnormal social behavior, Ataxia, Semantic dementia, Memory impairment ORPHA:1020
Angiostrongyliasis
Hypereosinophilia ORPHA:74
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, Progressive language deterioration, Hy... OMIM:610042
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Abnormal neutrophil count, Splenomeg... ORPHA:3226
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Incontinentia Pigmenti
Gait disturbance, Attention deficit hyperactivity disorder, Eosinophilia ORPHA:464
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Necrotizing Enterocolitis
Lethargy, Leukocytosis, Neutropenia, Thrombocytopenia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Scleroderma
Hypereosinophilia ORPHA:801
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Poor eye contact, Self-injurious beha... ORPHA:449291
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Transcobalamin Ii Deficiency
Lethargy, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Macrocytic anemia OMIM:275350
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Nephrotic Syndrome, Type 14
Lymphopenia, Hypoglycemia, Ataxia OMIM:617575
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Staphylococcal Necrotizing Pneumonia
Lethargy, Leukocytosis, Leukopenia, Neutrophilia, Diabetes mellitus ORPHA:36238
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Ataxia-Telangiectasia
T lymphocytopenia, Dystonia, Glucose intolerance, Decreased proportion of CD4-positive helper T c... OMIM:208900
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Hyperactivity ORPHA:391307
Coccidioidomycosis
Abscess, Abnormality of the spleen, Granuloma, Eosinophilia ORPHA:228123
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Waddling gait, Anemia OMIM:242900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neu... OMIM:613179
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Progressive gait ataxia, Abnormal social behavior, Difficulty walking, Emotio... ORPHA:309271
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive gait ataxia, Abnormal social behavior, Emotional lability, Progressive psyc... ORPHA:309263
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Insulin resistance, Gait disturbance, Lymphopenia, Ataxia, Anemia, Dysmetria,... OMIM:616541
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder ORPHA:64280
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Ataxia, Unsteady gait, Abnormal cortical gyration,... ORPHA:314647
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Progressive gait ataxia, Abnormal social behavior, Toe walking, Emotional ... ORPHA:309256
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Bone marrow hypocellularity, Splenomegaly ORPHA:829
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Ataxia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
48,Xxxy Syndrome
Abnormal social behavior, Irritability, Anxiety, Attention deficit hyperactivity disorder, Abnorm... ORPHA:96263
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly OMIM:616100
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Anemia, Leukopenia, Eosinophilia ORPHA:797
Mirage Syndrome
Lymphopenia, Hypoglycemia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen OMIM:617053
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Ataxia, Pancytopenia, Splenomegaly, Type I diabetes me... OMIM:615688
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Aggressive behavior, Dementia, Pr... ORPHA:646
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Legionnaires Disease
Lymphopenia, Bone marrow hypocellularity, Ataxia, Splenomegaly ORPHA:549
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Anemia, Sterile abscess, Neutro... ORPHA:3243
Secondary Intestinal Lymphangiectasia
Lymphopenia ORPHA:90363
Whim Syndrome
Limb ataxia, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia ORPHA:93552
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait ORPHA:93932
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Lymphopenia, Anemia, Splenomegaly OMIM:617591
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Head-banging, Anxiety, Atte... ORPHA:177907
Fusariosis
Lung abscess, Lymphopenia, Granuloma, Neutropenia, Abnormality of the spleen, Brain abscess ORPHA:228119
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Ataxia, Impaired tandem gait, Anemia, Neutrophilia ORPHA:99843
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Hepatosplenomegaly, Leukocytosis OMIM:260920
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... ORPHA:1675
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia ORPHA:935
Common Variable Immunodeficiency
Lymphopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly ORPHA:1572
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Lymphopenia ORPHA:90362
Tuberous Sclerosis Complex
Aggressive behavior, Abnormal social behavior, Self-injurious behavior, Anxiety, Hyperactivity, A... ORPHA:805
Mend Syndrome
Abnormal social behavior, Aggressive behavior, Hyperactivity ORPHA:401973
Japanese Encephalitis
Neutrophilia, Dystonia ORPHA:79139
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Familial Mediterranean Fever
Neutrophilia, Splenomegaly, Leukocytosis OMIM:249100
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Overfriendliness ORPHA:363958
Williams Syndrome
Overfriendliness, Abnormal social behavior, Gait disturbance, Ataxia, Anxiety, Dysmetria, Gait im... 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
Dlgap2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dlgap2em1(IMPC)Mhzh Exdel Mice

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