B3galnt2 | UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
Physiological systems
19 / 24 physiological systems tested
5 Significantly impacted by the knock-out
Embryo Growth/size/body region Behavior/neurological Skeleton Mortality/aging
14 No significant impact
5 Not tested
Data collections
Gene metrics:4Significant phenotypes
4Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
decreased bone mineral content | 1 supporting dataset | B3galnt2em1(IMPC)J | heterozygote | Early adult | 9.49x10-5 | ||
abnormal embryo size | 1 supporting dataset | B3galnt2em1(IMPC)J | homozygote | E18.5 | N/A * | ||
preweaning lethality, complete penetrance | 1 supporting dataset | B3galnt2em1(IMPC)J | homozygote | Early adult | N/A * | ||
abnormal locomotor behavior | 1 supporting dataset | B3galnt2em1(IMPC)J | heterozygote | Late adult | 1.56x10-5 |
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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.
External links
No external links available for B3galnt2.
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B3galnt2em1(IMPC)J | Exon Deletion | | mouse |
B3galnt2tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
B3galnt2tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |