Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:3784800 |
Assay Type: |
RNA in situ |
Annotation Date: |
2008-05-12 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757728 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3784820 |
Age: |
postnatal day 10 |
Image: |
3c P10 |
|
Specimen Label: |
3c P10 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3784800 |
Assay Type: |
RNA in situ |
Annotation Date: |
2008-05-12 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3784820 |
Age: |
postnatal day 5 |
Image: |
3c P5 |
|
Specimen Label: |
3c P5 |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3784800 |
Assay Type: |
RNA in situ |
Annotation Date: |
2008-05-12 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:3784820 |
Age: |
postnatal day 10 |
Image: |
3c P10 |
|
Specimen Label: |
3c P10 |
Detected: |
true |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3784800 |
Assay Type: |
RNA in situ |
Annotation Date: |
2008-05-12 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1881227 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:3784820 |
Age: |
postnatal day 1 |
Image: |
3c P1 |
|
Specimen Label: |
3c P1 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Weinert S |
Year: |
2010 |
Journal: |
Science |
Title: |
Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation. |
Volume: |
328 |
Issue: |
5984 |
Pages: |
1401-3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Weinert S |
Year: |
2014 |
Journal: |
EMBO Rep |
Title: |
Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions. |
Volume: |
15 |
Issue: |
7 |
Pages: |
784-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lane PW |
Year: |
1971 |
Journal: |
Mouse News Lett |
Title: |
Grey lethal (gl) |
Volume: |
44 |
|
Pages: |
30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Walker DG |
Year: |
1975 |
Journal: |
Science |
Title: |
Spleen cells transmit osteopetrosis in mice. |
Volume: |
190 |
Issue: |
4216 |
Pages: |
785-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rajapurohitam V |
Year: |
2001 |
Journal: |
Bone |
Title: |
The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/function. |
Volume: |
28 |
Issue: |
5 |
Pages: |
513-23 |
|
•
•
•
•
•
|
Publication |
First Author: |
BATEMAN N |
Year: |
1954 |
Journal: |
J Anat |
Title: |
Bone growth: a study of the grey-lethal and microphthalmic mutants of the mouse. |
Volume: |
88 |
Issue: |
2 |
Pages: |
212-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vacher J |
Year: |
1999 |
Journal: |
Mamm Genome |
Title: |
Genetic localization and transmission of the mouse osteopetrotic grey-lethal mutation. |
Volume: |
10 |
Issue: |
3 |
Pages: |
239-43 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ferron M |
Year: |
2011 |
Journal: |
Cell Metab |
Title: |
Inositol polyphosphate 4-phosphatase B as a regulator of bone mass in mice and humans. |
Volume: |
14 |
Issue: |
4 |
Pages: |
466-77 |
|
•
•
•
•
•
|
Publication |
First Author: |
Swank RT |
Year: |
1991 |
Journal: |
Blood |
Title: |
Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. |
Volume: |
78 |
Issue: |
8 |
Pages: |
2036-44 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nandakumar KS |
Year: |
2005 |
Journal: |
Eur J Immunol |
Title: |
A genetic contamination in MHC-congenic mouse strains reveals a locus on chromosome 10 that determines autoimmunity and arthritis susceptibility. |
Volume: |
35 |
Issue: |
4 |
Pages: |
1275-82 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chalhoub N |
Year: |
2001 |
Journal: |
Mamm Genome |
Title: |
Physical and transcriptional map of the mouse Chromosome 10 proximal region syntenic to human 6q16-q21. |
Volume: |
12 |
Issue: |
12 |
Pages: |
887-92 |
|
•
•
•
•
•
|
Publication |
First Author: |
Silvers WK |
Year: |
1979 |
|
Title: |
The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Brommage R |
Year: |
2014 |
Journal: |
Bone Res |
Title: |
High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes. |
Volume: |
2 |
|
Pages: |
14034 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tang T |
Year: |
2010 |
Journal: |
Nat Biotechnol |
Title: |
A mouse knockout library for secreted and transmembrane proteins. |
Volume: |
28 |
Issue: |
7 |
Pages: |
749-55 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lexicon Genetics, Inc |
Year: |
2011 |
Journal: |
Database Download |
Title: |
MGI download of Lexicon knockout data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information Editorial Staff Collaboration |
Year: |
2001 |
|
Title: |
LocusLink Collaboration |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Interaction Experiment |
Description: |
ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function. |
|
•
•
•
•
•
|
Interaction Experiment |
Description: |
Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking. |
|
•
•
•
•
•
|
Allele |
Name: |
osteopetrosis associated transmembrane protein 1; grey-lethal |
Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Meadows NA |
Year: |
2007 |
Journal: |
J Biol Chem |
Title: |
The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor. |
Volume: |
282 |
Issue: |
3 |
Pages: |
1891-904 |
|
•
•
•
•
•
|
Publication |
First Author: |
Leisle L |
Year: |
2011 |
Journal: |
EMBO J |
Title: |
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. |
Volume: |
30 |
Issue: |
11 |
Pages: |
2140-52 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Ostm1/Ostm1 |
Background: |
GL/Le Edar +/+ Ostm1/J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
338
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
168
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
181
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Osteopetrosis-associated transmembrane protein 1 (OSTM1) is required for osteoclast and melanocyte maturation and function. Mutations in OSTM1 give rise to autosomal recessive osteopetrosis, also called autosomal recessive Albers-Schonberg disease [, ]. |
|
•
•
•
•
•
|
Allele |
Name: |
osteopetrosis associated transmembrane protein 1; omi |
Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, spontaneous mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, spontaneous mutation |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Ostm1/Ostm1 |
Background: |
C3HeB/FeJ-Ostm1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Ostm1/Ostm1 |
Background: |
involves: C3HeB/FeJ |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Wartosch L |
Year: |
2009 |
Journal: |
FASEB J |
Title: |
Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7. |
Volume: |
23 |
Issue: |
12 |
Pages: |
4056-68 |
|
•
•
•
•
•
|
Publication |
First Author: |
Robertson Remen KM |
Year: |
2013 |
Journal: |
Biochem Biophys Res Commun |
Title: |
The liver X receptor promotes macrophage differentiation and suppresses osteoclast formation in mouse RAW264.7 promyelocytic leukemia cells exposed to bacterial lipopolysaccharide. |
Volume: |
430 |
Issue: |
1 |
Pages: |
375-80 |
|
•
•
•
•
•
|