Gene Summary

Name:
UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6
Synonyms:
GalTII

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
abnormal eye morphology B3galt6em2(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance B3galt6em2(IMPC)Tcp HOM   Early adult 0.00
embryonic lethality prior to organogenesis B3galt6em2(IMPC)Tcp HOM   E9.5 0.00
embryonic lethality prior to tooth bud stage B3galt6em2(IMPC)Tcp HOM   E12.5 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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Eye Morphology

Images Slit Lamp

1 Images

Histopathology

Images

2 Images

Human diseases caused by B3galt6 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 B3galt6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondyloepimetaphyseal Dysplasia With Joint Laxity
ORPHA:93359
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
OMIM:615349
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
ORPHA:2725
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
ORPHA:536467
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
OMIM:271640

The table below shows human diseases predicted to be associated to B3galt6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondyloepimetaphyseal Dysplasia With Joint Laxity
ORPHA:93359
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
OMIM:615349
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
ORPHA:2725
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
ORPHA:536467
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
OMIM:271640

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.

Phenotype Allele Zygosity Sex Life Stage
Sternum - MPATH pathological process term fibro-osseous lesion B3galt6em2(IMPC)Tcp HET Early adult
Heart - MPATH pathological process term fibrosis B3galt6em2(IMPC)Tcp HET Early adult
Sternum - MPATH pathological process term hyperplasia B3galt6em2(IMPC)Tcp HET Early adult

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 B3galt6.

No publications found that use IMPC mice or data for B3galt6.

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MGI Allele Allele Type Produced
B3galt6em2(IMPC)Tcp Indel causing a Frameshift Mutation Mice, Tissue

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