Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 |
---|---|---|---|---|---|---|
embryonic lethality prior to tooth bud stage | B3galt6em2(IMPC)Tcp | HOM | E12.5 | 0.00 | ||
abnormal eye morphology | B3galt6em2(IMPC)Tcp | HET | Early adult | 0.00 | ||
embryonic lethality prior to organogenesis | B3galt6em2(IMPC)Tcp | HOM | E9.5 | 0.00 | ||
preweaning lethality, complete penetrance | B3galt6em2(IMPC)Tcp | HOM | Early adult | 0.00 |
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 |
---|---|---|---|
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 | OMIM:615349 | ||
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome | ORPHA:536467 | ||
Al-Gazali Syndrome | OMIM:609465 | ||
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 |
---|---|---|---|
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 | OMIM:615349 | ||
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome | ORPHA:536467 | ||
Al-Gazali Syndrome | OMIM:609465 | ||
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures | OMIM:271640 |
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 |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter