Mouse Genome Informatics
cx1
    Dbttm1Geh/Dbttm1Geh
Tg(tetO-DBT)A1Geh/0
Tg(Cebpb-tTA)5Bjd/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB * NMRI
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 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
• transgenic mice survival is only ~16 weeks, when mice become moribund and are sacrificed

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
OMIM IDRef(s)
Maple Syrup Urine Disease; MSUD 248600 J:119973


Mouse Genome Informatics
tg2
    Tg(tetO-DBT)A1Geh/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
phenotype not analyzed
• transgenic mice do not have any ascribed abnormal phenotype