Gene Summary

Name:
chemokine (C-X-C motif) ligand 1
Synonyms:
Gro1,  KC/GRO-alpha,  Mgsa,  Scyb1,  KC,  Fsp,  N51

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 monocyte cell number Cxcl1em1(IMPC)Mbp HOM Early adult 1.49×10-05
abnormal lymph node morphology Cxcl1em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Cxcl1em1(IMPC)Mbp HOM Early adult 0.00
abnormal bone structure Cxcl1em1(IMPC)Mbp HOM Early adult 3.69×10-05
decreased bone mineral content Cxcl1em1(IMPC)Mbp HOM Early adult 4.76×10-07
decreased bone mineral density Cxcl1em1(IMPC)Mbp HOM Early adult 7.92×10-05
abnormal eye morphology Cxcl1em1(IMPC)Mbp HOM Early adult 0.00

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.

X-ray

XRay Images Whole Body Dorso Ventral

54 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

Human diseases caused by Cxcl1 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 Cxcl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:312500
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia, Osteolysis ORPHA:158014
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leuke... ORPHA:486
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenome... OMIM:612840
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoim... ORPHA:444463
Schnitzler Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased bone mineral density ORPHA:37748
Indolent Systemic Mastocytosis
Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Kimura Disease
Lymphadenopathy, Eosinophilia, Follicular hyperplasia ORPHA:482
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Mast Cell Sarcoma
Lymphadenopathy, Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Arthritis OMIM:617772
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Salmonella osteomy... OMIM:209950
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Microcytic anemia, Recurrent tonsillitis, Splenomegaly OMIM:618852
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... OMIM:618986
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node germinal center, ... OMIM:608184
Immunodeficiency 27B
Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis OMIM:615978
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Mediastinal lympha... OMIM:615559
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy OMIM:618982
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Osteoporosis, Anemia, Pat... ORPHA:98850
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia OMIM:212050
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Gamma-Heavy Chain Disease
Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopeni... ORPHA:100026
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Familial Papillary Or Follicular Thyroid Carcinoma
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Arthritis, Splenomegaly OMIM:611762
Classic Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Osteolysis ORPHA:391
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Pfapa Syndrome
Lymphadenopathy, Arthritis, Splenomegaly ORPHA:42642
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormality of th... ORPHA:543
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... OMIM:619375
Felty Syndrome
Neutropenia, Synovitis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Arthritis, Bone ... ORPHA:47612
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... OMIM:601859
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Neutr... ORPHA:54251
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia OMIM:602450
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphadenopathy, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplast... OMIM:308240
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Alpha-Heavy Chain Disease
Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Increased susceptib... ORPHA:98849
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegaly, Reduced bon... ORPHA:1451
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Abnormal nasop... ORPHA:3392
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia OMIM:618048
Omenn Syndrome
B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... OMIM:603554
Leishmaniasis
Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, ... ORPHA:507
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... ORPHA:169154
Niemann-Pick Disease, Type A
Lymphadenopathy, Osteoporosis, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, Sea-blue ... OMIM:257200
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Myelopr... ORPHA:3226
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Lymphoproliferative Syndrome 2
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:615122
Griscelli Syndrome Type 2
Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis ORPHA:79477
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of naive T cells, Lymph node hypoplasia, Decreased proportio... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Hip contracture, Lymphadenopathy, Hepatosplenom... ORPHA:353298
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:240500
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Poikiloc... ORPHA:824
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
Lymphoproliferative Syndrome 1
Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proport... OMIM:613011
Cyclic Neutropenia
Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsillitis, Cervic... ORPHA:2686
Heme Oxygenase 1 Deficiency
Thrombocytosis, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervical lymphadenop... OMIM:614034
Congenital Toxoplasmosis
Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:858
Macrophage Activation Syndrome
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Juvenile rheumatoid arthritis, Thrombocytopen... ORPHA:158061
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Arthritis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune he... OMIM:616100
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Myelofibrosis, Anemia, Generalized lymphadenopathy,... ORPHA:160
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly OMIM:609981
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Cold Agglutinin Disease
Lymphadenopathy, Hemolytic anemia, Splenomegaly ORPHA:56425
Immunodeficiency 10
Lymphadenopathy, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Anemia, Arthritis, Autoimmune thr... OMIM:304790
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... OMIM:613179
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Juvenile rheumatoid arthritis, Splenomegaly ORPHA:85414
Roifman Syndrome
Lymphadenopathy, Eosinophilia, Hip contracture, Splenomegaly OMIM:616651
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Flexion contracture, Splenomegaly OMIM:619183
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Osteo... ORPHA:97289
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Arthritis, Limitation of joint mobility ORPHA:69126
Rhabdoid Tumor
Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:69077
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Leukopenia, Lymphadenopathy, Arthritis, Splenomegaly, Joint stiffnes... ORPHA:809
Omenn Syndrome
Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... ORPHA:514
Griscelli Syndrome
Leukopenia, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:381
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Lymphadenitis, Splenomegaly, Osteomyelitis, Impaired oxidative burst, Rectal abs... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Lymphadenitis, Splenomegaly, Osteomyelitis, Impaired oxidative burst, Rectal abs... OMIM:233710
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Leukopenia ORPHA:83313
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Arthritis, Splenomegaly, Neutrophilia, Generalized lym... ORPHA:829
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Lymphadenitis, Splenomegaly, Osteomyelitis, Impaired oxidative burst, Rectal abs... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Lymphadenitis, Splenomegaly, Osteomyelitis, Impaired oxidative burst, Rectal abs... OMIM:306400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... OMIM:614700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased proportion of CD4+CD25+ regulator... OMIM:606367
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Lymphadenopathy, Sclerosis of hand bone, Sc... ORPHA:2905
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Cervical lymphadenopathy, Increased T cell count, Lymp... ORPHA:2442
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Lymphopenia, Flexion contracture, Thrombocytopenia OMIM:617591
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil granules, Ane... OMIM:214500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Hip osteoarthritis, Lymphadenopathy, Oligoarthritis, Knee osteoarthritis, Anemia, Arth... ORPHA:85408
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Anemia, Mediastinal lymphadenopathy ORPHA:83469
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Arthritis, Splenomegaly, Neutrophilia, Hepatospleno... OMIM:260920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... OMIM:600802
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Rheumatoid arthritis, Juvenile rheumat... OMIM:607944
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Enlarged tonsils, Absence of lymph... OMIM:308230
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Paratracheal lymphadenopathy, Anemia, Lymphopenia, Joint stiffness, F... OMIM:615934
Multiple Myeloma
Lymphadenopathy, Anemia, Splenomegaly, Osteopenia, Pathologic fracture ORPHA:29073
H Syndrome
Lymphadenopathy, Hepatosplenomegaly, Microcytic anemia, Camptodactyly, Recurrent fractures, Histi... ORPHA:168569
Lig4 Syndrome
Pancytopenia, Leukocytosis, Lymphadenopathy, Acute leukemia ORPHA:99812
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Anemia, Hepatosplenomegaly, Decreased proportion of memory... ORPHA:79124
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis ORPHA:540
Graft Versus Host Disease
Lymphadenopathy, Arthritis, Hepatosplenomegaly, Dupuytren contracture, Limited shoulder movement,... ORPHA:39812
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytop... OMIM:603553
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:267700
Farber Disease
Lymphadenopathy, Osteoporosis, Anemia, Arthritis, Hepatosplenomegaly, Flexion contracture, Thromb... ORPHA:333
Nephroblastoma
Lymphadenopathy ORPHA:654
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Arthritis, Limitation of joint mobility ORPHA:343
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Arthritis, Lymphopenia, Thrombocy... ORPHA:93552
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Agammaglobulinemia, X-Linked
Septic arthritis, Lymph node hypoplasia OMIM:300755
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Lymphadenopathy, Anemia, H... OMIM:610377
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Arthritis, Splenomegaly ORPHA:36412
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Flexion contracture of toe, Lymphadenopathy, Splenomegaly, Hepatospleno... OMIM:602782
Hereditary Amyloidosis With Primary Renal Involvement
Lymphadenopathy, Hepatosplenomegaly, Anemia, Abnormality of the lymph nodes ORPHA:85450
Legionnaires Disease
Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Splenomegaly ORPHA:549
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality of the lymph nodes, Splenomegaly, G... ORPHA:50918
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Lymphadenitis, Decreased p... ORPHA:331235
Chikungunya
Cervical lymphadenopathy, Synovitis, Lymphadenopathy, Periostitis, Arthritis, Osteolysis, Joint s... ORPHA:324625
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Lymphadenopathy, Anemia, Arthritis, Bone marrow hypocel... OMIM:615688
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Osteopetrosis, Craniosynostosis, Anemia, Splenomegaly, Reduced bone mineral dens... ORPHA:667
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Eosinophilia, Lymphocytosis ORPHA:139402
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Lymphadenopathy, Vacuolat... ORPHA:167
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Lymphadenitis, Knee osteoarthritis, Abnormality of the lymphat... ORPHA:2035
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia ORPHA:1572
Brucellosis
Leukocytosis, Thrombocytosis, Hip osteoarthritis, Lung abscess, Leukopenia, Lymphadenopathy, Knee... ORPHA:1304
Waldenström Macroglobulinemia
Normocytic anemia, Leukemia, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils ORPHA:33226
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Myelofibrosis, Anemia, Arthritis, Splenomegaly, Myeloproliferative ... ORPHA:3260
Malt Lymphoma
Lymphadenopathy, Anemia, Mediastinal lymphadenopathy ORPHA:52417
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Lympha... ORPHA:37042
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Abscess, Arthritis, Oste... ORPHA:228123
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Aplasia... ORPHA:83471
Q Fever
Lymphadenopathy, Anemia, Splenomegaly, Osteomyelitis, Hepatosplenomegaly, Granuloma, Thrombocytop... ORPHA:781
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Craniosynostosis, Splenomegaly, Lympho... ORPHA:2136
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Carney Triad
Lymphadenopathy, Anemia, Mediastinal lymphadenopathy ORPHA:139411
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Lymphadenopathy, Anemia, Arthritis, Spl... OMIM:619381
Familial Pancreatic Carcinoma
Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Arthritis, Splenomegaly ORPHA:32960
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Anemia, Splenomegaly, Joint hypermobility, Accessory spleen, Polysplenia OMIM:619418
Sarcoidosis, Susceptibility To, 1
Bone cyst, Mediastinal lymphadenopathy, Arthritis, Splenomegaly, Generalized lymphadenopathy, Pan... OMIM:181000
Tangier Disease
Orange discolored tonsils, Anemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Sarcoidosis
Bone cyst, Leukopenia, Increased T cell count, Lymphadenopathy, Anemia, Abnormality of the lymph ... ORPHA:797
Familial Mediterranean Fever
Lymphadenopathy, Osteoarthritis, Arthritis, Splenomegaly ORPHA:342
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Lymphadenopathy, Normochromic anemia, Arthritis, Decreased proport... ORPHA:289390
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:99826
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100077
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Neoplasm of the thymus, Osteoporosis, Abnormality of the lymph nodes, Lymphopenia, ... ORPHA:99889
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of toe, Lymphadenopathy, Splenomegaly, Microcytic anemia, Flexion contracture... OMIM:256040
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit, Lymphadenopathy ORPHA:100076
Crimean-Congo Hemorrhagic Fever
Stiff neck, Leukocytosis, Leukopenia, Lymphadenopathy, Splenomegaly, Neutrophilia, Pancytopenia, ... ORPHA:99827
Lymphangioleiomyomatosis
Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system ORPHA:538
Igg4-Related Submandibular Gland Disease
Lymphadenopathy, Eosinophilia ORPHA:449432
Blau Syndrome
Synovitis, Lymphadenopathy, Anemia, Splenomegaly, Limitation of joint mobility, Camptodactyly of ... ORPHA:90340
Behçet Disease
Lymphadenopathy, Arthritis, Splenomegaly ORPHA:117
Igg4-Related Kidney Disease
Lymphadenopathy, Lymphadenitis, Eosinophilia ORPHA:449395
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Igg4-Related Ophthalmic Disease
Lymphadenopathy, Eosinophilia ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Thrombocytopenia ORPHA:79078
Leptospirosis
Lymphadenopathy, Thrombocytopenia ORPHA:509
African Trypanosomiasis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:3385

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 Cxcl1

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 Cxcl1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Activation of the adipocyte CREB/CRTC pathway in obesity. Communications biology (October 2021) Cxcl1em1(IMPC)Mbp PMC8536733

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MGI Allele Allele Type Produced
Cxcl1em1(IMPC)Mbp Whole-gene deletion Mice, Tissue

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