Phenotypes associated with this allele

• Allele Symbol: Tg(tetO-DBT)A1Geh
• Allele Name: transgene insertion A1, Gregg E Homanics
• Allele ID: MGI:3704903
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Dbt^tm1Geh/Dbt^tm1Geh Tg(tetO-DBT)A1Geh/0 Tg(Cebpb-tTA)5Bjd/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB * NMRI	MGI:3704913

Genotype
MGI:3704913

cx1

• Allelic Composition: Dbt^tm1Geh/Dbt^tm1Geh; Tg(tetO-DBT)A1Geh/0; Tg(Cebpb-tTA)5Bjd/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB * NMRI

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:119973 )

• transgenic mice survival is only ~16 weeks, when mice become moribund and are sacrificed

postnatal lethality ( J:119973 )

• approximately 4% of pups surviving to weaning have this genotype, compared to a theoretical survival rate or 14%, indicating partial rescue of the Dbt^tm1Geh phenotype

homeostasis/metabolism

abnormal circulating amino acid level ( J:119973 )

• blood levels of alanine, glutamate, and glutamine are reduced compared to controls, but greater than in Dbt^tm1Geh 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

abnormal enzyme/coenzyme activity ( J:119973 )

• 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