Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

ORM1-like 3 (S. cerevisiae)

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Ormdl3 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 Ormdl3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex... ORPHA:98848
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia OMIM:266265
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Ch├ędiak-Higashi Syndrome
Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... ORPHA:167
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma ORPHA:542592
Immunodeficiency 108 With Autoinflammation
Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Lymphop... OMIM:618935
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... OMIM:613470
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal de... OMIM:214500
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy... OMIM:306400
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ... ORPHA:699


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 Ormdl3

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 Ormdl3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The ORMDL3 asthma susceptibility gene regulates systemic ceramide levels without altering key asthma features in mice. The Journal of allergy and clinical immunology (July 2019) Ormdl3tm1a(EUCOMM)Wtsi 31330218
ORMDL3 expression levels have no influence on the activity of serine palmitoyltransferase. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (September 2016) Ormdl3tm1c(EUCOMM)Wtsi Ormdl3tm1a(EUCOMM)Wtsi Ormdl3tm1d(EUCOMM)Wtsi 27645259

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
Ormdl3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ormdl3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ormdl3tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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