banner
Genes Phenotypes Help, News, Blog

Gene: Galnt18 MGI:2446239

Log in to follow

Gene Summary

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

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
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
decreased total body fat amount Galnt18tm1b(KOMP)Wtsi HOM Early adult 5.87×10-05
increased red blood cell distribution width Galnt18tm1b(KOMP)Wtsi HOM Early adult 2.37×10-08
increased circulating alkaline phosphatase level Galnt18tm1b(KOMP)Wtsi HOM Early adult 3.65×10-07
increased NK cell number Galnt18tm1b(KOMP)Wtsi 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

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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.

Download thumbnail Download
Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

5 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
Download thumbnail Download
DSS Histology

Images

8 Images

View images
X-ray

XRay Images Forepaw

14 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
Download thumbnail Download
Anti-nuclear antibody assay

Images

6 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

View images
Legacy Phenotype Associated Images
Galnt18tm1b(KOMP)Wtsi
HOM, Female, WTSI
Galnt18tm1b(KOMP)Wtsi
HOM, Female, WTSI
Galnt18tm1b(KOMP)Wtsi
HOM, Female, WTSI
Galnt18tm1b(KOMP)Wtsi
HOM, Female, WTSI
Galnt18tm1b(KOMP)Wtsi
HOM, Female, WTSI

View all 100 images

Galnt18tm1b(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, malocclusion, HOM, Female, WTSI
Galnt18tm1b(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, malocclusion, HOM, Female, WTSI
Galnt18tm1b(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Male, WTSI
Galnt18tm1b(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Male, WTSI
Galnt18tm1b(KOMP)Wtsi
head, abnormal snout morphology, HOM, Male, WTSI

View all 6 images

Galnt18tm1b(KOMP)Wtsi
TS20 skin, HET, Female, WTSI
Galnt18tm1b(KOMP)Wtsi
TS20 heart, HET, Female, WTSI
Galnt18tm1b(KOMP)Wtsi
TS20 tail, HET, Male, WTSI
Galnt18tm1b(KOMP)Wtsi
TS20 oral cavity, HET, Female, WTSI

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
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... OMIM:224120
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Failure to thrive, Fola... OMIM:258900
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... OMIM:616959
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Flexion contracture, Camptodactyly, Anisocytosis OMIM:604273
Immunodeficiency 19
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... OMIM:615617
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Failure to thrive, Increased circulating... OMIM:616050
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... ORPHA:158061
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... OMIM:618278
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... OMIM:241600
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Failu... ORPHA:331206
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... ORPHA:79277
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur... OMIM:618108
Acquired Partial Lipodystrophy
Lymphocytosis, Lipoatrophy ORPHA:79087
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... OMIM:308240
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Acute Monoblastic/Monocytic Leukemia
Anemia, Weight loss, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Immunodeficiency 54
Failure to thrive, Reduced natural killer cell count, Splenomegaly OMIM:609981
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Thrombocytosis, ... OMIM:301074
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
X-Linked Lymphoproliferative Disease
Increased B cell count, Reduced natural killer cell count, Hypertriglyceridemia, T lymphocytopeni... ORPHA:2442
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells OMIM:243700
Wolcott-Rallison Syndrome
Decreased body weight, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron defi... ORPHA:1667
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failu... OMIM:600802
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune throm... ORPHA:911
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly ORPHA:86843
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs... OMIM:608233
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cellulitis, Lymphocytosis, Failure to thrive, Elevated circulating C-reactive protein concentrati... OMIM:617718
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocytopenia, Decrea... ORPHA:221139
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, Weight loss, B lymphocytopenia, Dec... OMIM:619381
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia 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 PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Galnt18tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Galnt18tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Galnt18tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter