Type |
Details |
Score |
Publication |
First Author: |
Sheng MH |
Year: |
2008 |
Journal: |
FEBS Lett |
Title: |
Osteoactivin is a novel osteoclastic protein and plays a key role in osteoclast differentiation and activity. |
Volume: |
582 |
Issue: |
10 |
Pages: |
1451-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
King R |
Year: |
2018 |
Journal: |
PLoS Genet |
Title: |
Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma. |
Volume: |
14 |
Issue: |
1 |
Pages: |
e1007145 |
|
•
•
•
•
•
|
Publication |
First Author: |
Loftus SK |
Year: |
2009 |
Journal: |
Pigment Cell Melanoma Res |
Title: |
Comparison of melanoblast expression patterns identifies distinct classes of genes. |
Volume: |
22 |
Issue: |
5 |
Pages: |
611-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Anderson DM |
Year: |
2016 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Severe muscle wasting and denervation in mice lacking the RNA-binding protein ZFP106. |
Volume: |
113 |
Issue: |
31 |
Pages: |
E4494-503 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li Q |
Year: |
2019 |
Journal: |
Neuron |
Title: |
Developmental Heterogeneity of Microglia and Brain Myeloid Cells Revealed by Deep Single-Cell RNA Sequencing. |
Volume: |
101 |
Issue: |
2 |
Pages: |
207-223.e10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Magri L |
Year: |
2011 |
Journal: |
Cell Stem Cell |
Title: |
Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions. |
Volume: |
9 |
Issue: |
5 |
Pages: |
447-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chang B |
Year: |
2005 |
Journal: |
Vis Neurosci |
Title: |
Mouse models of ocular diseases. |
Volume: |
22 |
Issue: |
5 |
Pages: |
587-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Inoue SI |
Year: |
2017 |
Journal: |
Hum Mol Genet |
Title: |
Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice. |
Volume: |
26 |
Issue: |
23 |
Pages: |
4715-4727 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Dickinson ME |
Year: |
2016 |
Journal: |
Nature |
Title: |
High-throughput discovery of novel developmental phenotypes. |
Volume: |
537 |
Issue: |
7621 |
Pages: |
508-514 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory |
Year: |
2012 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by The Jackson Laboratory |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Velocigene |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Helmholtz Zentrum Muenchen GmbH |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
Magdaleno S |
Year: |
2006 |
Journal: |
PLoS Biol |
Title: |
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. |
Volume: |
4 |
Issue: |
4 |
Pages: |
e86 |
|
•
•
•
•
•
|
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: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
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: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
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: |
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: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
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: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
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 Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
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 Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
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 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. |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 1, Jun Wada |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Publication |
First Author: |
Moloney EB |
Year: |
2018 |
Journal: |
Neurobiol Dis |
Title: |
The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress. |
Volume: |
120 |
|
Pages: |
1-11 |
|
•
•
•
•
•
|
Publication |
First Author: |
Baba M |
Year: |
2019 |
Journal: |
Mol Cancer Res |
Title: |
TFE3 Xp11.2 Translocation Renal Cell Carcinoma Mouse Model Reveals Novel Therapeutic Targets and Identifies GPNMB as a Diagnostic Marker for Human Disease. |
Volume: |
17 |
Issue: |
8 |
Pages: |
1613-1626 |
|
•
•
•
•
•
|
Allele |
Name: |
glycoprotein (transmembrane) nmb; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Publication |
First Author: |
Chrystal PW |
Year: |
2021 |
Journal: |
Molecules |
Title: |
Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins. |
Volume: |
26 |
Issue: |
12 |
|
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Ho T |
Year: |
2016 |
Journal: |
J Biol Chem |
Title: |
The Kringle-like Domain Facilitates Post-endoplasmic Reticulum Changes to Premelanosome Protein (PMEL) Oligomerization and Disulfide Bond Configuration and Promotes Amyloid Formation. |
Volume: |
291 |
Issue: |
7 |
Pages: |
3595-612 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This is the Kringle-like domain (KLD) found in Melanocyte protein PMEL, Transmembrane glycoprotein NMB (GPNMB) and Transmembrane protein 130 (TMEM130), which is downstream the PKD domain. It contains six highly conserved cysteine residues that form the disulphide bonds of mature PMEL dimers and promotes PMEL functional amyloid formation [, ]. This domain is perfectly conserved in PMEL and GPNMB which suggests that GPNMB also forms dimers. PMEL and GPNMB, together with TMEM130 (its most ancient paralogue), have a conserved domain architecture and have been recently described as the PKAT (PKD- and KLD-Associated Transmembrane) protein family []. PMEL and GPNMB share overlapping phenotypes and disease associations, such as melanin-based pigmentation, cancer, neurodegenerative disease and glaucoma. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
236
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
141
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
274
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
189
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
155
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This family includes Melanocyte protein PMEL (also known as PMEL-17), Transmembrane glycoprotein NMB (GPNMB) and Transmembrane protein 130, previously described as melanocyte protein PMEL-17-related family. Regarding the highly conserved domain architecture of these family members, including the PKD, KLD and transmembrane (TM) domains, the name was updated and now referred to as PKD- and KLD-Associated Transmembrane (PKAT) protein family []. TMEM130 has been identified as the most ancient paralogue of PMEL and GPNMB.PMEL and GPNMB share overlapping phenotypes and disease associations, such as melanin-based pigmentation, cancer, neurodegenerative disease and glaucoma. |
|
•
•
•
•
•
|
Publication |
First Author: |
Zigdon H |
Year: |
2015 |
Journal: |
PLoS One |
Title: |
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease. |
Volume: |
10 |
Issue: |
3 |
Pages: |
e0120194 |
|
•
•
•
•
•
|
Publication |
First Author: |
Swaminathan S |
Year: |
2013 |
Journal: |
Pigment Cell Melanoma Res |
Title: |
Genetic modulation of the iris transillumination defect: a systems genetics analysis using the expanded family of BXD glaucoma strains. |
Volume: |
26 |
Issue: |
4 |
Pages: |
487-98 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
574
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
626
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
419
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
574
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
626
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
526
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
574
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
574
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
574
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Bhattacharyya S |
Year: |
2016 |
Journal: |
PLoS One |
Title: |
Inhibition of Phosphatase Activity Follows Decline in Sulfatase Activity and Leads to Transcriptional Effects through Sustained Phosphorylation of Transcription Factor MITF. |
Volume: |
11 |
Issue: |
4 |
Pages: |
e0153463 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wu JW |
Year: |
2017 |
Journal: |
PLoS Genet |
Title: |
Epistatic interaction between the lipase-encoding genes Pnpla2 and Lipe causes liposarcoma in mice. |
Volume: |
13 |
Issue: |
5 |
Pages: |
e1006716 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kingston R |
Year: |
2021 |
Journal: |
PLoS Genet |
Title: |
Serotonin transporter-mediated molecular axis regulates regional retinal ganglion cell vulnerability and axon regeneration after nerve injury. |
Volume: |
17 |
Issue: |
11 |
Pages: |
e1009885 |
|
•
•
•
•
•
|
Publication |
First Author: |
Isono Y |
Year: |
2020 |
Journal: |
Biochem Biophys Res Commun |
Title: |
FLCN alteration drives metabolic reprogramming towards nucleotide synthesis and cyst formation in salivary gland. |
Volume: |
522 |
Issue: |
4 |
Pages: |
931-938 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hong SB |
Year: |
2010 |
Journal: |
PLoS One |
Title: |
Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization. |
Volume: |
5 |
Issue: |
12 |
Pages: |
e15793 |
|
•
•
•
•
•
|
Publication |
First Author: |
Canet-Pons J |
Year: |
2021 |
Journal: |
Neurobiol Dis |
Title: |
Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression. |
Volume: |
152 |
|
Pages: |
105289 |
|
•
•
•
•
•
|
Publication |
First Author: |
Huang M |
Year: |
2020 |
Journal: |
Acta Neuropathol Commun |
Title: |
Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations. |
Volume: |
8 |
Issue: |
1 |
Pages: |
163 |
|
•
•
•
•
•
|
Publication |
First Author: |
Houser MC |
Year: |
2022 |
Journal: |
Front Immunol |
Title: |
Progranulin loss results in sex-dependent dysregulation of the peripheral and central immune system. |
Volume: |
13 |
|
Pages: |
1056417 |
|
•
•
•
•
•
|