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 HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia 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, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypobetalipoproteinemia, Familial, 1
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... OMIM:615558
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Jaundice, Elevated hepatic transaminase, Steatorrhea, Intrahepatic cholestasis, ... OMIM:607765
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
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
Hypocholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea ORPHA:71
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration OMIM:266510
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... OMIM:618156
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Elevated hepatic transaminase, Abnor... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Elevated hepatic transaminase, Steatorrhea, Hypoalbuminemia OMIM:212065
Alg12-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi... ORPHA:79324
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia OMIM:270400
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia 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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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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