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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
Skin rash, Splenomegaly, Arthritis, Elevated circulating C-reactive protein concentration, Juveni... ORPHA:85414
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis 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
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,... OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Papular Xanthoma
Histiocytosis ORPHA:158008
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... OMIM:308240
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Immunodeficiency 27A
Hypoalbuminemia, Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammator... OMIM:209950
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Transcobalamin Deficiency
Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, ... ORPHA:859
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c... ORPHA:540
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase... ORPHA:507
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema ORPHA:157991
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis ORPHA:139436
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenom... OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblains, Intestinal inflammatio... OMIM:619858
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammone... ORPHA:292
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocy... OMIM:619644
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... ORPHA:3243
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration ORPHA:353
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... ORPHA:167
Sea-Blue Histiocytosis
Blepharitis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I... ORPHA:470
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal de... OMIM:214500
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Niemann-Pick Disease, Type A
Microcytic anemia, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis OMIM:257200
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy... OMIM:306400
Listeriosis
Pneumonia, Arteritis, Brain abscess, Septic arthritis, Osteomyelitis, Pyelonephritis, Abscess, Ch... ORPHA:533
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Hemophagocytosis ORPHA:86884
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis OMIM:254450
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Chronic rhinitis, Hypertriglyceri... ORPHA:168569
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... OMIM:222700
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Granulomatosis With Polyangiitis
Keratitis, Episcleritis, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis media, Uveitis OMIM:608710
Granulomatosis With Polyangiitis
Otitis media, Skin rash, Increased inflammatory response, Inflammatory abnormality of the eye, Pr... ORPHA:900
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis OMIM:257220
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Sea-blue histiocytosis OMIM:230600
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis OMIM:607625
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Episcleritis, Histiocytosis, Splenomegaly OMIM:602782
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Splenomegaly, Arthritis, Elevated circulating C-reactive protein concentration, Juveni... ORPHA:85414
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis 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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