Type |
Details |
Score |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Fortun J |
Year: |
2006 |
Journal: |
Neurobiol Dis |
Title: |
Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression. |
Volume: |
22 |
Issue: |
1 |
Pages: |
153-64 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, congenic, chemically induced mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhao HT |
Year: |
2018 |
Journal: |
J Clin Invest |
Title: |
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. |
Volume: |
128 |
Issue: |
1 |
Pages: |
359-368 |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
194
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, chemically induced mutation, mutant strain |
|
•
•
•
•
•
|
Publication |
First Author: |
Huxley C |
Year: |
1998 |
Journal: |
Hum Mol Genet |
Title: |
Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. |
Volume: |
7 |
Issue: |
3 |
Pages: |
449-58 |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE1947 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Publication |
First Author: |
Anderson TJ |
Year: |
1999 |
Journal: |
Ann N Y Acad Sci |
Title: |
Distinct phenotypes associated with increasing dosage of the PLP gene: implications for CMT1A due to PMP22 gene duplication. |
Volume: |
883 |
|
Pages: |
234-46 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Allele |
Name: |
peripheral myelin protein 22; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
181
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry includes p53-induced proteins that are members of the Pmp22 family of tetraspan membrane proteins. |
|
•
•
•
•
•
|
Allele |
Name: |
peripheral myelin protein 22; targeted mutation 1, Ueli Suter |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
peripheral myelin protein 22; targeted mutation 1, Lucia Notterpek |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout, Reporter |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 247, Ueli Suter |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Allele |
Name: |
peripheral myelin protein 22; trembler 2 Harwell |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion JP18, Clare Huxley |
Allele Type: |
Transgenic |
Attribute String: |
Inducible, Inserted expressed sequence |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen Y |
Year: |
1997 |
Journal: |
Genomics |
Title: |
cDNA cloning, genomic structure, and chromosome mapping of the human epithelial membrane protein CL-20 gene (EMP1), a member of the PMP22 family. |
Volume: |
41 |
Issue: |
1 |
Pages: |
40-8 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Pmp22/Pmp22<+> |
Background: |
Not Specified |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Pmp22/Pmp22 |
Background: |
involves: 129S/SvEv |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(Pmp22)247Ueli/? |
Background: |
involves: C3H * C57BL/6 |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Pmp22/Pmp22<+> |
Background: |
involves: BALB/cAnNCrl * C3H/HeN |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Rangaraju S |
Year: |
2008 |
Journal: |
Neurobiol Dis |
Title: |
Pharmacological induction of the heat shock response improves myelination in a neuropathic model. |
Volume: |
32 |
Issue: |
1 |
Pages: |
105-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Norreel JC |
Year: |
2003 |
Journal: |
Neuroscience |
Title: |
Close relationship between motor impairments and loss of functional motoneurons in a Charcot-Marie-Tooth type 1A model. |
Volume: |
116 |
Issue: |
3 |
Pages: |
695-703 |
|
•
•
•
•
•
|
Publication |
First Author: |
Norreel JC |
Year: |
2001 |
Journal: |
Eur J Neurosci |
Title: |
Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model. |
Volume: |
13 |
Issue: |
8 |
Pages: |
1625-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lee JS |
Year: |
2019 |
Journal: |
Exp Neurobiol |
Title: |
miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22. |
Volume: |
28 |
Issue: |
2 |
Pages: |
279-288 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kohl B |
Year: |
2010 |
Journal: |
Neurobiol Dis |
Title: |
Lack of evidence for a pathogenic role of T-lymphocytes in an animal model for Charcot-Marie-Tooth disease 1A. |
Volume: |
38 |
Issue: |
1 |
Pages: |
78-84 |
|
•
•
•
•
•
|
Allele |
Name: |
peripheral myelin protein 22; trembler 2 Jackson |
Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion My41, Clare Huxley |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion C61, Clare Huxley |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion JY13, Clare Huxley |
Allele Type: |
Transgenic |
Attribute String: |
Transactivator |
|
•
•
•
•
•
|
Publication |
First Author: |
Huxley C |
Year: |
1996 |
Journal: |
Hum Mol Genet |
Title: |
Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. |
Volume: |
5 |
Issue: |
5 |
Pages: |
563-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Iida R |
Year: |
2001 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Cloning, mapping, genomic organization, and expression of mouse M-LP, a new member of the peroxisomal membrane protein Mpv17 domain family. |
Volume: |
283 |
Issue: |
2 |
Pages: |
292-6 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
194
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
200
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Dalla Rosa I |
Year: |
2016 |
Journal: |
PLoS Genet |
Title: |
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria. |
Volume: |
12 |
Issue: |
1 |
Pages: |
e1005779 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
176
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
178
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
165
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
105
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
147
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
170
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
162
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
116
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
73
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
104
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
193
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Brosius U |
Year: |
2002 |
Journal: |
J Biol Chem |
Title: |
Two different targeting signals direct human peroxisomal membrane protein 22 to peroxisomes. |
Volume: |
277 |
Issue: |
1 |
Pages: |
774-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Trott A |
Year: |
2004 |
Journal: |
Eukaryot Cell |
Title: |
SYM1 is the stress-induced Saccharomyces cerevisiae ortholog of the mammalian kidney disease gene Mpv17 and is required for ethanol metabolism and tolerance during heat shock. |
Volume: |
3 |
Issue: |
3 |
Pages: |
620-31 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu F |
Year: |
2008 |
Journal: |
J Cell Biol |
Title: |
Making two organelles from one: Woronin body biogenesis by peroxisomal protein sorting. |
Volume: |
180 |
Issue: |
2 |
Pages: |
325-39 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
The 22kDa peroxisomal membrane protein (PMP22) is a major component of peroxisomal membranes. PMP22 seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the organelle membrane. PMP22 is synthesised on free cytosolic ribosomes and then directed to the peroxisome membrane by specific targeting information []. SYM1 in yeast and Mpv17 in higher eukaryotes are closely related peroxisomal proteins required to maintain mitochondrial DNA (mtDNA) integrity and stability [, ]. Mpv17 is involved in the development of early-onset glomerulosclerosis [].Woronin sorting complex protein from Neurospora crassa is also included in this family. It is involved in both Woronin bodies (WB) formation and inherence []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
193
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Kinter J |
Year: |
2013 |
Journal: |
Neurobiol Dis |
Title: |
An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease. |
Volume: |
49 |
|
Pages: |
221-31 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jeon H |
Year: |
2023 |
Journal: |
Brain |
Title: |
TGFβ4 alleviates the phenotype of Charcot-Marie-Tooth disease type 1A. |
Volume: |
146 |
Issue: |
9 |
Pages: |
3608-3615 |
|
•
•
•
•
•
|
Publication |
First Author: |
Verhamme C |
Year: |
2011 |
Journal: |
J Neuropathol Exp Neurol |
Title: |
Myelin and axon pathology in a long-term study of PMP22-overexpressing mice. |
Volume: |
70 |
Issue: |
5 |
Pages: |
386-98 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Pmp22/Pmp22<+> |
Background: |
C57BL/6J-Pmp22/GrsrJ |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion C1, Clare Huxley |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion C22, Clare Huxley |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Publication |
First Author: |
Fledrich R |
Year: |
2018 |
Journal: |
Nat Commun |
Title: |
Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy. |
Volume: |
9 |
Issue: |
1 |
Pages: |
3025 |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion C22, Frank Baas |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, mutant strain, congenic |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion C3, Frank Baas |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(PMP22)C61Clh/? |
Background: |
B6.Cg-Tg(PMP22)C61Clh |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(Pmp22)My41Clh/? |
Background: |
involves: C57BL/6J * CBA/Ca |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(PMP22)C22Fbas/? |
Background: |
B6.Cg-Tg(PMP22)C22Fbas |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Bai Y |
Year: |
2022 |
Journal: |
Mol Neurobiol |
Title: |
Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice. |
Volume: |
59 |
Issue: |
7 |
Pages: |
4159-4178 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kaya F |
Year: |
2008 |
Journal: |
FEBS Lett |
Title: |
Ascorbic acid is a regulator of the intracellular cAMP concentration: old molecule, new functions? |
Volume: |
582 |
Issue: |
25-26 |
Pages: |
3614-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Klein D |
Year: |
2022 |
Journal: |
Glia |
Title: |
Early targeting of endoneurial macrophages alleviates the neuropathy and affects abnormal Schwann cell differentiation in a mouse model of Charcot-Marie-Tooth 1A. |
Volume: |
70 |
Issue: |
6 |
Pages: |
1100-1116 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, mutant stock |
|
•
•
•
•
•
|
Publication |
First Author: |
Grimal S |
Year: |
2010 |
Journal: |
Glia |
Title: |
Collagen XXVIII is a distinctive component of the peripheral nervous system nodes of ranvier and surrounds nonmyelinating glial cells. |
Volume: |
58 |
Issue: |
16 |
Pages: |
1977-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Barbaria EM |
Year: |
2009 |
Journal: |
Neurobiol Dis |
Title: |
The alpha-chemokine CXCL14 is up-regulated in the sciatic nerve of a mouse model of Charcot-Marie-Tooth disease type 1A and alters myelin gene expression in cultured Schwann cells. |
Volume: |
33 |
Issue: |
3 |
Pages: |
448-58 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yoon BA |
Year: |
2024 |
Journal: |
Sci Rep |
Title: |
p62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot-Marie-Tooth disease type 1A. |
Volume: |
14 |
Issue: |
1 |
Pages: |
10972 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(PMP22)C22Clh/? |
Background: |
involves: C57BL/6J * CBA/Ca |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
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Genotype |
Symbol: |
Tg(PMP22-tTA)JY13Clh/? Tg(tetO/CMV-Pmp22)JP18Clh/? |
Background: |
involves: C57BL/6J * CBA/Ca |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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•
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