Gene Summary

Name:
polypeptide N-acetylgalactosaminyltransferase 2
Synonyms:
ppGaNTase-T2

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
preweaning lethality, incomplete penetrance Galnt2em1(IMPC)Bay 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.

MicroCT E18.5

Embryo reconstruction

8 Images

Human diseases caused by Galnt2 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 Galnt2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration OMIM:618885

The table below shows human diseases predicted to be associated to Galnt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Elevated circulating hepatic transaminase concentration ORPHA:71
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... OMIM:618156
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Elevated circulating hepatic transaminase concentration, Hy... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating hepatic transaminase concentration, St... OMIM:212065
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Ab... ORPHA:79324
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration OMIM:270400
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration OMIM:618885

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 Galnt2

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 Galnt2.

No publications found that use IMPC mice or data for Galnt2.

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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.

MGI Allele Allele Type Produced
Galnt2em1(IMPC)Bay Exon Deletion Mice
Galnt2tm86332(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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