Type |
Details |
Score |
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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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 |
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Allele |
Name: |
1,4-alpha-glucan branching enzyme 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
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Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
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Allele |
Name: |
1,4-alpha-glucan branching enzyme 1; mutation 1, Yu-Ting Yan |
Allele Type: |
Chemically induced (ENU) |
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Allele |
Name: |
1,4-alpha-glucan branching enzyme 1; targeted mutation 1, H Orhan Akman |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, No functional change |
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Allele |
Name: |
1,4-alpha-glucan branching enzyme 1; targeted mutation 1.1, H Orhan Akman |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
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•
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•
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Allele |
Name: |
1,4-alpha-glucan branching enzyme 1; targeted mutation 2.1, H Orhan Akman |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, Hypomorph |
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Publication |
First Author: |
Thon VJ |
Year: |
1993 |
Journal: |
J Biol Chem |
Title: |
Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. |
Volume: |
268 |
Issue: |
10 |
Pages: |
7509-13 |
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•
•
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Publication |
First Author: |
Froese DS |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. |
Volume: |
24 |
Issue: |
20 |
Pages: |
5667-76 |
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Publication |
First Author: |
Bao Y |
Year: |
1996 |
Journal: |
J Clin Invest |
Title: |
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. |
Volume: |
97 |
Issue: |
4 |
Pages: |
941-8 |
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Protein Domain |
Type: |
Family |
Description: |
This entry consists of glycogen branching enzyme GlgB from bacteria and GBE1 from eukaryotes, which are responsible for the transfer of chains of alpha(1,4)-linked glucosyl residues to other similar chains (in new alpha-(1,6) linkages) in the biosynthesis of glycogen []. GlgB is responsible for the degree of alpha(1,6) branch linkages found in polysaccharides []. GBE1 is required for normal glycogen accumulation in animals [, ]. Deficiency in GBE1 results in glycogen storage disease type IV []. |
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Genotype |
Symbol: |
Gbe1/Gbe1 |
Background: |
C3HeB/FeJ-Gbe1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
•
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•
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Genotype |
Symbol: |
Gbe1/Gbe1 |
Background: |
involves: 129S7/SvEvBrd |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
•
•
•
•
|
Genotype |
Symbol: |
Gbe1/Gbe1 |
Background: |
involves: 129S7/SvEvBrd |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
•
•
•
•
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Genotype |
Symbol: |
Gbe1/Gbe1 |
Background: |
involves: 129S7/SvEvBrd |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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DO Term |
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•
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Publication |
First Author: |
Guan H |
Year: |
1995 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Maize branching enzyme catalyzes synthesis of glycogen-like polysaccharide in glgB-deficient Escherichia coli. |
Volume: |
92 |
Issue: |
4 |
Pages: |
964-7 |
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Publication |
First Author: |
Tolmasky DS |
Year: |
1987 |
Journal: |
Eur J Biochem |
Title: |
The degree of branching in (alpha 1,4)-(alpha 1,6)-linked glucopolysaccharides is dependent on intrinsic properties of the branching enzymes. |
Volume: |
168 |
Issue: |
2 |
Pages: |
393-7 |
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Publication |
First Author: |
Uruno A |
Year: |
2016 |
Journal: |
Mol Cell Biol |
Title: |
Nrf2-Mediated Regulation of Skeletal Muscle Glycogen Metabolism. |
Volume: |
36 |
Issue: |
11 |
Pages: |
1655-72 |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
112
 |
Fragment?: |
true |
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•
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Publication |
First Author: |
Nitschke S |
Year: |
2022 |
Journal: |
Brain |
Title: |
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency. |
Volume: |
145 |
Issue: |
7 |
Pages: |
2361-2377 |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
702
 |
Fragment?: |
false |
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•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
702
 |
Fragment?: |
false |
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•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
660
 |
Fragment?: |
false |
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•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
660
 |
Fragment?: |
false |
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•
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