Gene Summary

Name:
polypeptide N-acetylgalactosaminyltransferase 18
Synonyms:
2900011G21Rik,  Galntl4

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
increased NK cell number Galnt18tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Galnt18tm1b(KOMP)Wtsi HOM Early adult 3.65×10-07
decreased circulating fructosamine level Galnt18tm1b(KOMP)Wtsi HOM Early adult 7.66×10-06
increased lean body mass Galnt18tm1b(KOMP)Wtsi HOM Early adult 2.76×10-05
increased red blood cell distribution width Galnt18tm1b(KOMP)Wtsi HOM Early adult 2.37×10-08
decreased total body fat amount Galnt18tm1b(KOMP)Wtsi HOM Early adult 5.87×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 558)
aorta 0.18% (1 of 552)
blood vessel 0.0%
bone 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
eye 0.0%
gall bladder 0.0%
heart 0.19% (1 of 540)
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.36% (2 of 549)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
parathyroid gland 0.19% (1 of 528)
peripheral nervous system 0.18% (1 of 548)
peyer's patch 0.61% (1 of 165)
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
striatum 0.55% (3 of 547)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
trachea 0.55% (3 of 547)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

6 Images

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 100 images

View all 6 images

Human diseases caused by Galnt18 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 Galnt18 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Spherocytosis, He... ORPHA:71275
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Orotic Aciduria
Poikilocytosis, Folate-unresponsive megaloblastic anemia, Anisocytosis, Failure to thrive, Pyrimi... OMIM:258900
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-... OMIM:616050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... ORPHA:158061
Dominant Beta-Thalassemia
Hepatosplenomegaly, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Failure to thrive, Chronic hemolytic anemia, Hemo... OMIM:618278
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Congenital Erythropoietic Porphyria
Scarring, Increased erythrocyte protoporphyrin concentration, Leukopenia, Abnormal circulating po... ORPHA:79277
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Perianal abscess, Reduced natural killer... OMIM:618108
Acquired Partial Lipodystrophy
Lymphocytosis, Lipoatrophy ORPHA:79087
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Failure to thrive in infancy, Decrease... OMIM:619510
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Fail... ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Immunodeficiency 54
Failure to thrive, Splenomegaly, Reduced natural killer cell count OMIM:609981
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemia, Lymphocytosis, Weight loss ORPHA:514
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Leukopenia, Abnorm... ORPHA:443811
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
X-Linked Lymphoproliferative Disease
Pancytopenia, Increased circulating ferritin concentration, T lymphocytopenia, Hepatosplenomegaly... ORPHA:2442
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation with phytohema... OMIM:600802
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Failu... ORPHA:911
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent platelet dense granules, Splenomegaly, Neutro... OMIM:608233
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, Acute myelomonocytic leukemia ORPHA:86843
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Hepatosplenomegaly, Absent natural killer cells, Failure to thrive in infancy,... ORPHA:35078
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Abnormal T cell subset di... ORPHA:221139
Ch├ędiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... ORPHA:3261
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Elevated circulating C-re... OMIM:619381
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Lymphocytosis OMIM:258360

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 Galnt18

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 Galnt18.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Galnt18tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Galnt18tm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Galnt18tm1b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Galnt18tm1b(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Galnt18tm1b(KOMP)Wtsi