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Gene: Nsmaf MGI:1341864

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
neutral sphingomyelinase (N-SMase) activation associated factor
Synonyms:
factor associated with N-SMase activation,  Fan

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IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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 Nsmaf 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 Nsmaf by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity OMIM:614493
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Immunodeficiency 81
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... OMIM:619374
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lack of T cell function ORPHA:277
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating Ig... OMIM:619774
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Partial IgA deficiency, Pustule, Lack of T cell function, Decreased circulating total ... ORPHA:35078
Roifman Syndrome
Decreased T cell activation, Eczema, Decreased circulating antibody level ORPHA:353298
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Lack of T cell function, Chronic mucocutaneous candidiasis, Decreased circulating anti... ORPHA:572
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis OMIM:209920
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Eczematoid dermatitis, Pyoderma OMIM:242700
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Seborrheic dermatitis, Chronic mucocutaneous candi... OMIM:618131
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... OMIM:600802
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Increased circulating IgE level, Increased circulating IgG level, Defective T c... OMIM:618213
Purine Nucleoside Phosphorylase Deficiency
Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in... OMIM:613179
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Oligoclonal T cell expansion, Decreased lymphocyte proliferation in respon... ORPHA:83471
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology ORPHA:1830
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Wiskott-Aldrich Syndrome
Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat... OMIM:301000
Orotic Aciduria
Impaired T cell function OMIM:258900
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Chronic mucocutaneous candidiasis, ... OMIM:242840
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion, Increased circulating antibody level, Abnormality of T ce... OMIM:181000
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Acne, Impaired T cell function, Polyhydramnios, Seborrheic dermatitis ORPHA:567
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis OMIM:188400

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 Nsmaf

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 Nsmaf.

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

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
Nsmaftm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nsmaftm44419(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nsmaftm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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