Gene Summary

Name:
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
Synonyms:
D230016N13Rik,  A930105D20Rik

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
abnormal embryo size B3galnt2em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance B3galnt2em1(IMPC)J HOM   Early adult 0.00
decreased bone mineral content B3galnt2em1(IMPC)J HET Early adult 9.43×10-05

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

7 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Gross Morphology Embryo E18.5

Images

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by B3galnt2 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 B3galnt2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle-Eye-Brain Disease
Meningocele ORPHA:588
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616
Walker-Warburg Syndrome
ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
OMIM:615181

The table below shows human diseases predicted to be associated to B3galnt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Muscle-Eye-Brain Disease
Meningocele ORPHA:588
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616
Walker-Warburg Syndrome
ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
OMIM:615181

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 B3galnt2

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 B3galnt2.

No publications found that use IMPC mice or data for B3galnt2.

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MGI Allele Allele Type Produced
B3galnt2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
B3galnt2em1(IMPC)J Exon Deletion Mice
B3galnt2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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