Phenotypes Associated with This Genotype

Genotype
MGI:3704920

• Allelic Composition: Dbt^tm1Geh/Dbt^tm1Geh; Tg(tetO-DBT)525AGeh/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 )

• only 12% (2/16) transgenic mice survive to 20 weeks; two surviving mice live to 40 and 60 weeks, respectively

postnatal lethality ( J:119973 )

• approximately 11% of pups surviving to weaning have this genotype, compared to a theoretical survival rate or 14%, indicating high degree of rescue of the Dbt-deficient phenotype

homeostasis/metabolism

abnormal circulating amino acid level ( J:119973 )

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

• BCAA/alanine (BCAA -branched-chain amino acids - leucine + isoleucine + valine) values are intermediate between controls and Dbt^tm1Geh homozygotes between 4-10 weeks of age

abnormal enzyme/coenzyme activity ( J:119973 )

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