|
|
| Nomenclature |
|
Symbol:
|
Gbe1m1Yty
|
|
Name:
|
glucan (1,4-alpha-), branching enzyme 1;
mutation 1, Yu-Ting Yan
|
|
MGI ID: |
MGI:4868492 |
|
Synonyms: |
Gbe1E609X |
|
Gene:
|
Gbe1
Location:
Chr16:70313949-70569716 bp, + strand
Genetic Position: Chr16,
40.19 cM, cytoband C2
|
|
Mutation
origin |
|
Strain of Origin:
|
C3HeB/FeJ
|
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: ENU mutagenesis induced a G to T transition that resulted in the amino acid substitution of a stop codon for glutamic acid at position 609 (E609X). (J:167233)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Gbe1 Mutation:
|
1 strain or line available |
|
| References |
|
Original: |
J:167233
Lee YC et al.,
"Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV."
Hum Mol Genet 2011 Feb 1;20(3):455-65
|
|
All: |
2 reference(s)
|
|
Analysis Tools
