About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3704913
Allelic
Composition
Dbttm1Geh/Dbttm1Geh
Tg(tetO-DBT)A1Geh/0
Tg(Cebpb-tTA)5Bjd/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dbttm1Geh mutation (1 available); any Dbt mutation (7 available)
Tg(Cebpb-tTA)5Bjd mutation (3 available)
Tg(tetO-DBT)A1Geh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• transgenic mice survival is only ~16 weeks, when mice become moribund and are sacrificed
• approximately 4% of pups surviving to weaning have this genotype, compared to a theoretical survival rate or 14%, indicating partial rescue of the Dbttm1Geh phenotype

homeostasis/metabolism
• blood levels of alanine, glutamate, and glutamine are reduced compared to controls, but greater than in Dbttm1Geh homozygous mice
• BCAA/alanine (BCAA -branched-chain amino acids - leucine + isoleucine + valine) values are intermediate between controls and Dbt-null mice between 4-7 weeks of age
• levels of branched-chain keto acid dehydrogenase (BCKDH) activity are only 5-6% of controls levels, despite nearly equal protein levels, indicating suboptimal BCKDH activity of protein assembled with human E2

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
maple syrup urine disease DOID:9269 OMIM:246900
OMIM:248600
OMIM:615135
J:119973


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/08/2019
MGI 6.14
The Jackson Laboratory