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Gene: Acsm1 MGI:2152200

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Gene Summary

Name:
acyl-CoA synthetase medium-chain family member 1
Synonyms:
Macs,  Bucs1

Order Alleles

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
decreased exploration in new environment Acsm1em1(IMPC)Mhzh HOM Early adult 8.36×10-07
thin ventricular wall Acsm1em1(IMPC)Mhzh HOM   Early adult 2.21×10-05
increased basophil cell number Acsm1em1(IMPC)Mhzh HOM   Early adult 3.13×10-06
increased eosinophil cell number Acsm1em1(IMPC)Mhzh HOM Early adult 1.03×10-05

Download data as:  TSV  XLS

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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 Acsm1 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 Acsm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia, Endocardial ... OMIM:607685
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Halothane Hepatitis
Eosinophilia OMIM:234350
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Kimura Disease
Eosinophilia ORPHA:482
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Wells Syndrome
Eosinophilia ORPHA:901
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Anxiety OMIM:618092
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Cinca Syndrome
Eosinophilia, Anemia, Leukocytosis, Hepatosplenomegaly OMIM:607115
Roifman Syndrome
Ventricular septal defect, Eosinophilia, Noncompaction cardiomyopathy, Splenomegaly OMIM:616651
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly ORPHA:353298
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Netherton Syndrome
Hypereosinophilia OMIM:256500
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly OMIM:617388
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Myocarditis ORPHA:139402
Cystic Echinococcosis
Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst, Abnormal heart morphology ORPHA:400
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Eosinophilia, Endocarditis, Myocarditis, Hypertrophic cardiomyop... ORPHA:183
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... OMIM:102700
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia OMIM:158310
Scleroderma
Cognitive impairment, Anxiety, Myocarditis, Interstitial cardiac fibrosis, Hypereosinophilia, Per... ORPHA:801
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... ORPHA:3260
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Alveolar Echinococcosis
Cutaneous abscess, Abnormal pericardium morphology, Abnormal spleen morphology, Eosinophilia, Ane... ORPHA:284
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Mitral valve prolap... ORPHA:508533
Igg4-Related Pachymeningitis
Mental deterioration, Eosinophilia ORPHA:449427
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia ORPHA:199299
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Leukocytosis, Atrioventricular canal defect, Eosinophilia, Hepatosplenomega... OMIM:274000
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Incontinentia Pigmenti
Eosinophilia, Cognitive impairment ORPHA:464
Coccidioidomycosis
Cognitive impairment, Eosinophilia, Abscess, Abnormality of the spleen, Granuloma, Pericarditis ORPHA:228123
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Tropical Endomyocardial Fibrosis
Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Eosinophilia, Endocar... ORPHA:75565
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Igg4-Related Kidney Disease
Eosinophilia, Pericarditis ORPHA:449395
Cushing Disease
Lymphopenia, Leukocytosis, Panic attack, Memory impairment, Suicidal ideation, Emotional lability... ORPHA:96253
Sarcoidosis
Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell count ORPHA:797
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... ORPHA:906
Viss Syndrome
Double outlet right ventricle, Atrial septal defect, Right ventricular hypertrophy, Ventricular s... OMIM:619472
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Leukocytosis, Anxiety, Panic attack, Memory impairment, Suicidal ideation, Emotional... ORPHA:99889
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Myocarditis ORPHA:221

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 Acsm1

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 Acsm1.

No publications found that use IMPC mice or data for Acsm1.

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MGI Allele Allele Type Produced
Acsm1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Acsm1tm42209(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acsm1em1(IMPC)Mhzh Indel Mice
Acsm1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Acsm1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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