Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Acsm1em1(IMPC)Mhzh HOM Early adult 8.36×10-07
increased eosinophil cell number Acsm1em1(IMPC)Mhzh HOM Early adult 1.03×10-05
increased basophil cell number Acsm1em1(IMPC)Mhzh HOM   Early adult 3.13×10-06
thin ventricular wall Acsm1em1(IMPC)Mhzh HOM   Early adult 2.21×10-05

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, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia 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
Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative disorder, Eosi... OMIM:607685
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Halothane Hepatitis
Eosinophilia OMIM:234350
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Kimura Disease
Eosinophilia ORPHA:482
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Pericarditis, Endocardial fibrosis, Abnormal morphology of... ORPHA:75566
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Wells Syndrome
Eosinophilia ORPHA:901
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Anxiety, Eosinophilia OMIM:618092
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Roifman Syndrome
Ventricular septal defect, Eosinophilia, Noncompaction cardiomyopathy, Splenomegaly OMIM:616651
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia, Noncompaction cardiomyopathy ORPHA:353298
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
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 B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Combined Immunodeficiency Due To Zap70 Deficiency
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... ORPHA:911
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Netherton Syndrome
Hypereosinophilia OMIM:256500
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Abnormal heart morphology, Abscess, Eosinophilia ORPHA:400
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Endocarditis, Eosinophilia, Abnormal pericardium morpho... ORPHA:183
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Lymphocytosis ORPHA:139402
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Immunodeficiency 23
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia OMIM:158310
Scleroderma
Myocarditis, Pericarditis, Cognitive impairment, Interstitial cardiac fibrosis, Hypereosinophilia... ORPHA:801
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Dementia, Myocardial eosinophilic infiltrat... ORPHA:3260
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Alveolar Echinococcosis
Anemia, Abnormal spleen morphology, Eosinophilia, Abnormal pericardium morphology, Cutaneous absc... ORPHA:284
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Ventricular septal defect, Anemia, Hepatosplenomegaly, Atrial septal defect, Tetral... OMIM:274000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, De... ORPHA:508533
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Igg4-Related Pachymeningitis
Mental deterioration, Eosinophilia ORPHA:449427
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Eosinophilia, Normocytic anemia ORPHA:199299
Incontinentia Pigmenti
Eosinophilia, Cognitive impairment ORPHA:464
Coccidioidomycosis
Abnormality of the spleen, Pericarditis, Abscess, Cognitive impairment, Granuloma, Eosinophilia ORPHA:228123
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Myocardial calcification, Endocardial fibrosis, Coronary artery stenosis... 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
Leukocytosis, Dementia, Suicidal ideation, Emotional lability, Lymphopenia, Panic attack, Decreas... ORPHA:96253
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Sarcoidosis
Leukopenia, Increased T cell count, Anemia, Thrombocytopenia, Eosinophilia, Hemolytic anemia ORPHA:797
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Viss Syndrome
Ventricular septal defect, Right ventricular dilatation, Mitral valve prolapse, Right ventricular... OMIM:619472
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Dementia, Suicidal ideation, Emotional lability, Lymphopenia, Panic attack, Anxiety... ORPHA:99889
Dermatomyositis
Myocarditis, Abnormal eosinophil morphology, Pericarditis 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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