Gene Summary

Name:
alveolar soft part sarcoma chromosome region, candidate 1 (human)
Synonyms:
ASPCR1,  ASPC,  1190006K01Rik,  TUG,  ASPL,  RCC17

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lymphocyte cell number Aspscr1em1(IMPC)Tcp HOM Early adult 9.79×10-05
decreased exploration in new environment Aspscr1em1(IMPC)Tcp HOM Early adult 4.80×10-06
decreased neutrophil cell number Aspscr1em1(IMPC)Tcp HOM Early adult 2.69×10-05
abnormal liver morphology Aspscr1em1(IMPC)Tcp HOM Early adult 0.00
abnormal cecum morphology Aspscr1em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Aspscr1em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

Eye Morphology

Images Ophthalmoscopy

100 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Aspscr1 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.

The table below shows human diseases associated to Aspscr1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alveolar Soft Part Sarcoma
OMIM:606243

The table below shows human diseases predicted to be associated to Aspscr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Malabsorption, Irritability, Thrombocytopenia, Folate-responsive megalob... OMIM:229050
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Aregenerative Anemia
Dementia, Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Cognitive im... ORPHA:101096
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Lymphadenopathy, Leukemia, Anemia, Malabsorption, Ab... ORPHA:98850
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hemochromatosis, Type 3
Neutropenia, Anemia, Cirrhosis, Lymphopenia, Elevated hepatic transaminase OMIM:604250
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... ORPHA:169154
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... ORPHA:543
Cyclic Neutropenia
Enterocolitis, Peritonitis, Lymphadenopathy, Perianal abscess, Cyclic neutropenia, Lymphopenia, R... ORPHA:2686
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... OMIM:601859
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Villous atrophy, Lymphadenopathy, Coombs-positive hemolytic anemia, Hepatitis, Anemi... OMIM:304790
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Adult Idiopathic Neutropenia
Neutropenia, Helicobacter pylori infection, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia OMIM:617243
Kimura Disease
Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia ORPHA:482
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphadenopathy, Decreased mean platelet volume, Lymphocytos... OMIM:617718
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Irritability, Thrombocytopenia, Jaundice OMIM:246400
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Neutropenia, Villous atrophy, Colitis, Malabsorption, Viral hepatitis, Biliary tract... OMIM:209920
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Esophageal neoplasm, Abnormal large intes... ORPHA:2198
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci... OMIM:308230
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... ORPHA:398124
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Macroglossia, Hepatomegaly, Microcytic anemia, Neutropenia OMIM:251900
X-Linked Agammaglobulinemia
Neutropenia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic system, Hepatiti... ORPHA:47
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Abnormal intestine morphology, Neutropenia OMIM:600351
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Cognitive impairment, Neutropenia OMIM:617056
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Decreased liver function, Chole... ORPHA:540
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Crohn's disease, Neutropenia OMIM:601495
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cleft palate, Neutropenia, High palate, Leukopenia, Monocytosis, Hypoplasia of the ... OMIM:612541
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent infection of the gastrointestinal tract, Neutropenia, Neutropen... ORPHA:572
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Abnormal macrophage morphology, Irritab... ORPHA:292
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Diamond-Blackfan Anemia 11
Cleft palate, Neutropenia, Anemia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... ORPHA:54251
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenopathy, Lymphadenitis, Absence of CD8... ORPHA:911
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... ORPHA:424019
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, In... OMIM:614700
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Felty Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... ORPHA:47612
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Whim Syndrome 1
Neutropenia OMIM:193670
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Neutropenia, Mon... ORPHA:486
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Neutropenia, Chronic gastritis, Colitis OMIM:608809
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Lactose intolerance, High palate, Neutropenia, Abnormal proportion of CD8... ORPHA:443811
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Median cleft palate, Giant platelets, Thrombo... OMIM:169400
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Autosomal Agammaglobulinemia
High palate, Hepatitis, Neutropenia, Malabsorption ORPHA:33110
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Absent natural killer cells, ... ORPHA:2442
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Aganglionic megaco... OMIM:250250
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormal intestine morphology, Celiac disease, Neutropenia in presence of anti-neutropil antibodi... OMIM:615952
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal T cell s... ORPHA:158048
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Shwachman-Diamond Syndrome
Neutropenia, Pancreatic hypoplasia, Leukemia, Steatorrhea, Pancytopenia, Bone marrow hypocellular... ORPHA:811
Wolcott-Rallison Syndrome
Hepatomegaly, Neutropenia, Iron deficiency anemia, Abnormality of the liver, Acute hepatic failur... ORPHA:1667
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Gastroesophageal reflux, Neutropenia OMIM:614857
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Neutropenia, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:37042
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Functional abnormality of the gastrointestinal tract, Ga... ORPHA:90051
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Shwachman-Diamond Syndrome 2
Hepatomegaly, High palate, Normocytic anemia, Neutropenia, Hyperechogenic pancreas, Steatorrhea, ... OMIM:617941
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Persistence of hemoglobin F, Ac... OMIM:260400
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Irritability, Reticulocytopenia, Pancytopenia OMIM:275350
Lichtenstein Syndrome
Neutropenia OMIM:246550
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Sple... OMIM:608233
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
High palate, Neutropenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:614520
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Dementia, Neutropenia, Thrombocytopenia, Elevated hepati... ORPHA:167
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Retinal Venous Beading
Neutropenia OMIM:180080
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Propionic Acidemia
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Pancytopenia, Thrombocytopenia OMIM:606054
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Crohn's disease, Autoimmune thrombocytopenia, Lympho... OMIM:616100
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Bone marro... ORPHA:1830
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Macroglossia, Anemia, Bone marrow hypocellularity, Splenom... OMIM:617303
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... ORPHA:514
3-Methylglutaconic Aciduria Type 7
Neutropenia, Bone marrow hypocellularity, Hepatic steatosis, Elevated hepatic transaminase, Infec... ORPHA:445038
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... OMIM:613179
Kikuchi-Fujimoto Disease
Hepatomegaly, Neutropenia, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Ab... ORPHA:50918
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Abnormality of the liver, Panc... ORPHA:2169
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Evans Syndrome
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... ORPHA:1959
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Anemia, Pancytopenia, Thrombocytopenia OMIM:251110
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Abnormal lymphatic vessel morphology,... ORPHA:2330
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Abnormality of the liver, Intussusception, Int... OMIM:112200
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... ORPHA:829
Aspergillosis
Eosinophilia, Hepatitis, Neutropenia, Abnormal esophagus morphology ORPHA:1163
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Acute hepatic failu... OMIM:619644
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:242900
Cohen Syndrome
High, narrow palate, Neutropenia, Leukopenia OMIM:216550
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Anemia, Pancytopenia, Thrombocytopenia OMIM:251100
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:228426
Toxic Epidermal Necrolysis
Dysphagia, Neutropenia, Intestinal perforation, Anemia, Pancreatitis, Malabsorption, Acute hepati... ORPHA:537
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Neutropenia, Megaloblastic anemia, Glossitis, Reduced number of intrahepatic bile d... ORPHA:79284
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia, Peritonitis ORPHA:391673
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Neutropenia, Megaloblastic anemia, Glossitis, Pancytopenia, Thrombocytopenia OMIM:277380
Immunodeficiency 23
High palate, Neutropenia, Abscess, Esophageal stricture, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Whim Syndrome
Neutropenia, Abnormality of the small intestine, Lymphadenitis, Parotitis, Lymphopenia, Abnormali... ORPHA:51636
Congenital Disorder Of Glycosylation, Type Iic
Anxiety, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Reticulocytopeni... ORPHA:508542
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Peritonitis, Abnormality of ... ORPHA:228119
Pearson Syndrome
Hepatomegaly, Dysphagia, Neutropenia, Macronodular cirrhosis, Elevated hepatic transaminase, Medi... ORPHA:699
Psoriasis 14, Pustular
Geographic tongue, Leukocytosis, Cholangitis, Furrowed tongue, Neutrophilia OMIM:614204
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Neutropenia, Increased mean corpuscular volume, Esophagitis OMIM:612562
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Dysphagia, Gastroesophageal reflux, Neutropenia OMIM:615471
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Cholestatic liver disease, Abnormal small intestinal mucosa morph... ORPHA:92050
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Zygomycosis
Brain abscess, Colon perforation, Splenic abscess, Mediastinal lymphadenopathy, Neutropenia, Peri... ORPHA:73263
Pediatric-Onset Graves Disease
Mood swings, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Ir... ORPHA:525731
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Glycogen Storage Disease Ib
Hepatomegaly, Neutropenia, Hepatocellular carcinoma, Pancreatitis, Elevated hepatic transaminase OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Inflammation of the large intestine, Hepatocellular carcinoma,... ORPHA:79259
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia OMIM:607944
Fanconi Anemia, Complementation Group D2
Neutropenia, Annular pancreas, Leukemia, Bone marrow hypocellularity, Anemia, Esophageal atresia,... OMIM:227646
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Hepatitis, Acute hepatic failure, Lymphocytosis, Elevated hepatic transaminase, ... ORPHA:139402
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chron... ORPHA:906
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Rectal prolapse, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Ac... ORPHA:90038
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Lymphadenopathy, Neoplasm of the liver, Intestinal bleed... ORPHA:424016
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocytopenia, Pancytopenia, Thro... OMIM:227645
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dementia, Neutropenia, Megaloblastic anemia, Glossitis, Mental deterioration, Thrombocytopenia, M... ORPHA:79282
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Neutropenia, Cognitive impairment, Anemia, Malabsorption, Ab... ORPHA:175
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Leigh Syndrome
Dysphagia, Neutropenia, Gastrointestinal dysmotility, Anemia, Progressive neurologic deterioratio... ORPHA:506
Selective Igm Deficiency
Recurrent infection of the gastrointestinal tract, Stomach cancer, Neutropenia in presence of ant... ORPHA:331235
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Dementia, Megaloblastic anemia, Neutropenia OMIM:277400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Abnormal intestine morphology, Villous atrophy, Neutropenia in presence of ant... ORPHA:391487
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Elevated hepatic transaminase, Thrombocytopenia, ... ORPHA:91547
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Portal fibrosis, Splenomegaly, Hepatosplenomegaly, Eosinophilia, Leukocytosis, Demen... ORPHA:3260
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Neutropenia OMIM:618005
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Cleft palate, High pala... OMIM:105650
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Acute myeloid leukemia, Neutropenia, Steatorrhea OMIM:601347
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Neutropenia, Malabsorption ORPHA:79430
Cohen Syndrome
High, narrow palate, Aplasia/Hypoplasia of the tongue, Neutropenia ORPHA:193
Trichothiodystrophy
Anemia, High, narrow palate, Neutropenia, Increased mean corpuscular hemoglobin concentration ORPHA:33364
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly OMIM:260920
Rothmund-Thomson Syndrome Type 2
Cleft palate, Neutropenia, High palate, Leukemia, Functional abnormality of the gastrointestinal ... ORPHA:221016
Scleroderma
Abnormality of the small intestine, Abnormal large intestine morphology, Cognitive impairment, Ab... ORPHA:801
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Rothmund-Thomson Syndrome Type 1
Neutropenia, Leukemia, Functional abnormality of the gastrointestinal tract, Anemia, Aplastic anemia ORPHA:221008
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Hepatomegaly, Splenomegaly OMIM:612852
X-Linked Intellectual Disability, Nascimento Type
Aggressive behavior, Neutropenia, Recurrent cutaneous abscess formation ORPHA:163956
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:2909
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Peritonitis, Splenomegaly, Neutrophilia, Crohn's disease OMIM:249100
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Lymph node hypoplasia OMIM:300755
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intestine, Sterile abscess, A... ORPHA:3243
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Neutropenia, Elevated hepatic transaminase, Xerostomia, Abnormality of the anus, Intestinal perfo... ORPHA:95455
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia ORPHA:36238
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia, Macroglossia ORPHA:500095
Crimean-Congo Hemorrhagic Fever
Mood swings, Leukocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Melena, Splenomegaly, Hemop... ORPHA:99827
Aspartylglucosaminuria
Macroglossia, Vacuolated lymphocytes, Neutropenia, Hepatomegaly OMIM:208400
Fg Syndrome Type 1
Pyloric stenosis, High palate, Abnormal large intestine morphology, Anal atresia, Gastroesophagea... ORPHA:93932
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... ORPHA:90291
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Hepatomegaly, Anemia, Neutrophilia, Narrow palate, Microcytic anemia, Protruding to... ORPHA:99843
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Yellow Fever
Leukocytosis, Neutrophilia, Elevated circulating alanine aminotransferase concentration, Elevated... ORPHA:99829
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Hamartomatous polyposis, Abnormal large intestine morphology, Intestinal polyposis ORPHA:109
Alveolar Soft Part Sarcoma
OMIM:606243

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 Aspscr1

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 Aspscr1.

No publications found that use IMPC mice or data for Aspscr1.

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MGI Allele Allele Type Produced
Aspscr1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aspscr1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aspscr1em1(IMPC)Tcp Exon Deletion Mice
Aspscr1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Aspscr1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Aspscr1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Aspscr1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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