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Gene: Ufc1 MGI:1913405

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Gene Summary

Name:
ubiquitin-fold modifier conjugating enzyme 1
Synonyms:
ESTM29,  1110021H02Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Ufc1em1(IMPC)Marc HET Early adult 1.07×10-13
increased eosinophil cell number Ufc1em1(IMPC)Marc HET Early adult 2.42×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Ufc1 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.

The table below shows human diseases associated to Ufc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Spasticity And Poor Growth
OMIM:618076

The table below shows human diseases predicted to be associated to Ufc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 88
Eosinophilia OMIM:619630
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Kimura Disease
Eosinophilia ORPHA:482
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodeficiency 7
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia OMIM:615387
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Cinca Syndrome
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis OMIM:607115
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... OMIM:304790
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... OMIM:603554
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Omenn Syndrome
Anemia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia ORPHA:39041
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... OMIM:615952
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... OMIM:602450
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly OMIM:617388
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... OMIM:243700
Netherton Syndrome
Hypereosinophilia OMIM:256500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... OMIM:102700
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... ORPHA:2686
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Cystic Echinococcosis
Eosinophilia, Peritoneal abscess, Abscess, Splenic cyst ORPHA:400
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:3261
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia ORPHA:199299
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Alveolar Echinococcosis
Liver abscess, Anemia, Abnormal spleen morphology, Eosinophilia, Cutaneous abscess ORPHA:284
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... ORPHA:508533
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... ORPHA:3260
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Thrombocytopenia-Absent Radius Syndrome
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Coccidioidomycosis
Granuloma, Eosinophilia, Abscess, Abnormality of the spleen ORPHA:228123
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
Sarcoidosis
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Eosinophilia, Hemolytic anemia ORPHA:797
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess OMIM:147060
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Viss Syndrome
Hypereosinophilia OMIM:619472
Cushing Disease
Lymphopenia, Leukocytosis, Decreased eosinophil count ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Leukocytosis, Decreased eosinophil count ORPHA:99889
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Neurodevelopmental Disorder With Spasticity And Poor Growth
OMIM:618076

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 Ufc1

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 Ufc1.

No publications found that use IMPC mice or data for Ufc1.

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MGI Allele Allele Type Produced
Ufc1em1(IMPC)Marc Deletion Mice
Ufc1tm462283(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ufc1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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