Gene Summary

Name:
ADAMTS-like 3
Synonyms:
punctin-2,  9230119C12Rik

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
enlarged urinary bladder Adamtsl3em1(IMPC)Tcp HOM Early adult 0.00
small spleen Adamtsl3em1(IMPC)Tcp HOM Early adult 0.00
increased neutrophil cell number Adamtsl3em1(IMPC)Tcp HOM Early adult 5.88×10-05
enlarged lymph nodes Adamtsl3em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

Images Ophthalmoscopy

158 Images

Eye Morphology

Images Ophthalmoscopy

103 Images

Eye Morphology

Images Slit Lamp

103 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

3 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Human diseases caused by Adamtsl3 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 Adamtsl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Hepatomegaly, Jaundice, Anemia, Splenomegaly, Ly... OMIM:603552
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormality of the pancreas, Anemia, Neutrophilia, Abnormality of the lymphatic sy... ORPHA:54251
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Hepatomegaly, Jaundice, Splenomegaly, Lymphadenopathy ORPHA:79477
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positiv... ORPHA:276
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormality of the lymph nodes ORPHA:33111
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Lym... OMIM:613179
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Mirage Syndrome
Microphallus, Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypospadias, Hypoplastic spleen OMIM:617053
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Lymphadenopathy, Leukocytosis OMIM:617099
Hyper-Igd Syndrome
Leukocytosis, Lymphadenitis, Renal angiomyolipoma, Elevated urine mevalonic acid, Splenomegaly, N... OMIM:260920
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Pearson Syndrome
Lacticaciduria, Exocrine pancreatic insufficiency, Reticulocytosis, Hepatic steatosis, Macronodul... ORPHA:699
Relapsing Fever
Hematuria, Acute kidney injury, Leukocytosis, Thrombocytopenia, Jaundice, Anemia, Leukopenia, Neu... ORPHA:91547
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal hypoplasia, Hydronephrosis, Multilobulated spleen, Pelvic kidney, Hypopla... OMIM:601186
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Hepatomegaly, Splenomegaly OMIM:612852
Psoriasis 14, Pustular
Neutrophilia, Cholangitis, Leukocytosis OMIM:614204
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Lymph node hypoplasia OMIM:300755
Familial Mediterranean Fever
Peritonitis, Leukocytosis, Hepatomegaly, Nephrotic syndrome, Stage 5 chronic kidney disease, Sple... OMIM:249100
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Chronic hepatitis, C... ORPHA:3260
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Anemia, Sterile abscess, Neutro... ORPHA:3243
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Hepatomegaly, Anemia, Neutrophilia ORPHA:99843
Japanese Encephalitis
Neutrophilia ORPHA:79139

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 Adamtsl3

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 Adamtsl3.

No publications found that use IMPC mice or data for Adamtsl3.

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MGI Allele Allele Type Produced
Adamtsl3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adamtsl3em1(IMPC)Tcp Exon Deletion Mice, Tissue
Adamtsl3tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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