- preweaning lethality, complete penetrance / IMPC
B6Brd;B6N-Tyrc-Brd Gbe1tm1a(KOMP)Wtsi/Wtsi
Status | Available to order |
EMMA ID | EM:12026 |
International strain name | B6Brd;B6N-Tyrc-Brd Gbe1tm1a(KOMP)Wtsi/Wtsi |
Alternative name | EPD0164_6_A02 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Gbe1tm1a(KOMP)Wtsi, |
Gene/Transgene symbol | Gbe1 |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
Provider | Wellcome Trust Sanger Institute |
Provider affiliation | Wellcome Trust Sanger Institute |
Genetic information | This mouse line originates from KOMP ES clone EPD0164_6_A02. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | Wellcome Trust Sanger Institute, Hinxton, United Kingdom |
Animals used for archiving | heterozygous C57BL/6Brd-Tyr |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form / Orphanet_308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form / Orphanet_308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form / Orphanet_308621
- Adult polyglucosan body disease / Orphanet_206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form / Orphanet_308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form / Orphanet_308712
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form / Orphanet_308684
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form / Orphanet_308670
IMPC phenotypes (allele matching)
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