Gene Summary

Name:
gasdermin C
Synonyms:
Gsdmc1,  Mlze

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
abnormal sternum morphology Gsdmcem1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Gsdmcem1(IMPC)Tcp HOM Early adult 0.00
increased monocyte cell number Gsdmcem1(IMPC)Tcp HOM   Early adult 5.88×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Slit Lamp

96 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

101 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Gsdmc 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 Gsdmc by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis OMIM:616871
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hemophagocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hemophagocytosis, Decr... OMIM:619802
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Broad thumb, Hepatosple... OMIM:612541
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, Aplasia of the... OMIM:602450
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Craniorachischisis
Bifid sternum ORPHA:63260
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Drum... OMIM:303600

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 Gsdmc

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 Gsdmc.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gsdmctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gsdmcem1(IMPC)Tcp Inter-exon deletion Mice

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