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Protein Coding Gene : Bbs12 Bardet-Biedl syndrome 12

Primary Identifier  MGI:2686651 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  241950
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable ATP binding activity. Acts upstream of or within several processes, including intraciliary transport; negative regulation of cell differentiation; and photoreceptor cell maintenance. Predicted to be located in cilium. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 12. Orthologous to human BBS12 (Bardet-Biedl syndrome 12).
PHENOTYPE: Mice homozygous for a targeted allele exhibit enhanced adipogenesis, late onset obesity, increased susceptibility to diet-induced obesity, increased insulin sensitivity, increased glucose usage, and decreased inflammatory response. [provided by MGI curators]
  • synonyms:
  • MGI:2685567,
  • Gm407,
  • LOC241950,
  • Gm721,
  • MGI:2685253,
  • gene model 1805, (NCBI),
  • LOC386537,
  • Gm1805,
  • gene model 407, (NCBI),
  • gene model 721, (NCBI),
  • Bardet-Biedl syndrome 12,
  • Bbs12

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

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0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For