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Gene: Lacc1 MGI:2445077

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Gene Summary

Name:
laccase domain containing 1
Synonyms:
9030625A04Rik

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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.

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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.

Legacy Phenotype Associated Images
Lacc1tm1a(KOMP)Wtsi
HOM, Female, WTSI
Lacc1tm1a(KOMP)Wtsi
HOM, Male, WTSI
Lacc1tm1a(KOMP)Wtsi
HOM, Male, WTSI
Lacc1tm1a(KOMP)Wtsi
HOM, Male, WTSI
Lacc1tm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 48 images

Lacc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Lacc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Lacc1 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 Lacc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,... ORPHA:85414
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795

The table below shows human diseases predicted to be associated to Lacc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... OMIM:608898
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Anem... OMIM:603552
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... OMIM:308240
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Incre... OMIM:209950
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody le... ORPHA:859
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculopapular... ORPHA:540
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Hypoalb... ORPHA:507
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Recurrent... OMIM:301078
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa... OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural kil... OMIM:603553
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... OMIM:619858
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... ORPHA:158048
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertriglyceridemia, Inc... OMIM:267700
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... ORPHA:292
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... OMIM:619644
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia ORPHA:79477
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration ORPHA:353
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Hyponatremia, S... ORPHA:167
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233710
Sea-Blue Histiocytosis
Splenomegaly, Blepharitis, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Abnormal circu... ORPHA:470
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233690
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Abnormal dense gr... OMIM:214500
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... ORPHA:227982
Niemann-Pick Disease, Type A
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia OMIM:257200
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:306400
Listeriosis
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Abscess, Pustule, Myocardit... ORPHA:533
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
H Syndrome
Psoriasiform dermatitis, Hypertriglyceridemia, Microcytic anemia, Bronchiectasis, Hepatosplenomeg... ORPHA:168569
Lysinuric Protein Intolerance
Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalveolar phosphol... OMIM:222700
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Granulomatosis, Conjunctivitis, Chronic otitis media OMIM:608710
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis... ORPHA:171
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Elevated circulating C-react... ORPHA:900
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Elevated circulating creatinine concentration, Crescentic glomerulonephritis,... ORPHA:93126
Niemann-Pick Disease, Type C1
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells OMIM:257220
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Sea-blue histiocytosis OMIM:230600
Niemann-Pick Disease, Type C2
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells OMIM:607625
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Histiocytosis, Splenomegaly, Hepatosplenomegaly OMIM:602782
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,... ORPHA:85414
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795

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 Lacc1

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 Lacc1.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A purine metabolic checkpoint that prevents autoimmunity and autoinflammation. Cell metabolism (January 2022) Lacc1tm1a(KOMP)Wtsi PMC8730334
Myeloid Cell Expression of LACC1 Is Required for Bacterial Clearance and Control of Intestinal Inflammation. Gastroenterology (July 2020) Lacc1tm1a(KOMP)Wtsi PMC8139320
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Lacc1tm1a(KOMP)Wtsi PMC7263671
FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle. Cell (January 2020) Lacc1tm1a(KOMP)Wtsi PMC6978800
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Lacc1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Lacc1tm1a(KOMP)Wtsi PMC6459510
LACC1 Regulates TNF and IL-17 in Mouse Models of Arthritis and Inflammation. Journal of immunology (Baltimore, Md. : 1950) (December 2018) Lacc1tm1a(KOMP)Wtsi PMC6305794
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Lacc1tm1a(KOMP)Wtsi Lacc1tm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Lacc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lacc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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