Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Fc receptor, IgE, high affinity I, alpha polypeptide
Synonyms:
Fce1a,  Fcr-5,  FcERI

IMPC Data Collections

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

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.

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 Fcer1a 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 Fcer1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Splenomegaly, Abnor... ORPHA:98848
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Sebastian syndrome
Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophi... OMIM:605249
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Ab... OMIM:619374
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Diffuse Cutaneous Mastocytosis
Erythroderma, Leukemia, Cutaneous mastocytosis ORPHA:79456
Maculopapular Cutaneous Mastocytosis
Rhinitis, Cutaneous mastocytosis ORPHA:79457
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Increased circulating ferritin concen... ORPHA:167
Fanconi Anemia, Complementation Group V
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:617243
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Mastocytosis
Chronic leukemia, Hypercalcemia, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Hemolytic anemia, Lymphadenitis, Impaired oxidative burst, Lymphopenia, Ulcerative colit... OMIM:618935
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Cholecy... OMIM:613470
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:233710
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:233690
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Recurrent b... OMIM:214500
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968

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 Fcer1a

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 Fcer1a.

No publications found that use IMPC mice or data for Fcer1a.

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MGI Allele Allele Type Produced
Fcer1atm208538(L1L2_Pgk_P) Targeting vectors

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