|  Help  |  About  |  Contact Us

Protein Coding Gene : Ostm1 osteopetrosis associated transmembrane protein 1

Primary Identifier  MGI:2655574 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  14628
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Acts upstream of or within osteoclast differentiation. Located in cytosol. Is expressed in several structures, including alimentary system; hemolymphoid system gland; nervous system; skeleton; and skin. Used to study autosomal recessive osteopetrosis 5. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 5. Orthologous to human OSTM1 (osteoclastogenesis associated transmembrane protein 1).
PHENOTYPE: A model for osteopetrosis, mice homozygous for mutations of this gene display osteogenic abnormalities, including failure of tooth eruption. Mutants also have abnormal coat color as well as a reduced life span. [provided by MGI curators]
  • synonyms:
  • expressed sequence AW123348,
  • grey-lethal,
  • Ostm1,
  • osteopetrosis associated transmembrane protein 1,
  • MGI:95725,
  • MGI:2143814,
  • gl,
  • MGI:1921359,
  • AW123348,
  • RIKEN cDNA 1200002H13 gene,
  • 1200002H13Rik,
  • MGD-MRK-10102,
  • HSPC019

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

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

3 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

 

Other

0 Driver For