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Ostm1
Gene Detail
 Symbol
Name
ID
Ostm1
osteopetrosis associated transmembrane protein 1
MGI:2655574
Synonyms 1200002H13Rik, gl, HSPC019
Feature Type protein coding gene
Genetic Map
Chromosome 10
22.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr10:42583822-42702459 bp, + strand
From VEGA annotation of GRCm38

  118638 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32203  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Ostm1

Human
homologs
Human Homolog OSTM1, osteopetrosis associated transmembrane protein 1
NCBI Gene ID 28962
neXtProt AC  NX_Q86WC4
Human Synonyms  GIPN, GL, OPTB5
Human Chr (Location)  6q21; chr6:108041409-108074737 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human OSTM1
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Spontaneous(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Ostm1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Ostm1 interacts with 301 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process osteoclast differentiation
Component cytoplasm, cytosol, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (58)    Tissues (34)    Images (9)
Theiler Stages: 20, 23, 26, 27, 28
Assay TypeResults
RNA in situ 40
Northern blot 18
cDNA source data(49)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(51) Genomic(1) cDNA(49) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000019462 (Evidence)
Ensembl Gene ModelENSMUSG00000038280 (Evidence)
Entrez Gene14628 (Evidence)
UniGene46636
DFCITC1577743
DoTSDT.489820, DT.91580223
NIA Mouse Gene IndexU011448
Consensus CDS ProjectCCDS23814.1
International Mouse Knockout Project StatusOstm1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019462 VEGA Gene Model | MGI Sequence Detail 118638 C57BL/6J ±  kb
transcript OTTMUST00000046478 VEGA | MGI Sequence Detail 3006 Not Applicable 
polypeptide OTTMUSP00000020987 VEGA | MGI Sequence Detail 338 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(2) UniProt(3)
Polymorphisms SNPs within 2kb(607 from dbSNP Build 137)    SNPs within 2kb including multiple locations(609)
Protein-related
information
ResourceIDDescription
InterPro IPR019172 Osteopetrosis-associated transmembrane protein 1 precursor
Protein Ontology PR:000012068 osteopetrosis-associated transmembrane protein 1
References (Earliest) J:15551 Gruneberg H, A new sub-lethal colour mutation in the house mouse. Proc R Soc Lond B Biol Sci. 1935;118:321-42
(Latest) J:195249 Bosman EA, et al., Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1. Mamm Genome. 2013 Feb;24(1-2):44-53
All references(51)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-10102, MGI:1921359, MGI:2143814, MGI:95725

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory