Phenotypes Associated with This Genotype

Genotype
MGI:3704912

• Allelic Composition: Dbt^tm1Geh/Dbt^tm1Geh
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:119973 )

• on day 1 after birth, homozygotes become moribund and almost all die within 72 hours of birth; one pup lived to P13

behavior/neurological

lethargy ( J:119973 )

• on first day after birth, homozygotes become lethargic

homeostasis/metabolism

abnormal circulating amino acid level ( J:119973 )

• homozygotes have nearly 3-fold increased levels of branched-chain amino acids (BCAA, sum of leucine + isoleucine + valine) in the blood compared to wild-type littermates

• BCAA/alanine ratio is 6-fold higher than in wild-type or heterozygotes

decreased circulating alanine level ( J:119973 )

• blood levels of alanine are markedly lower than in wild-type or heterozygous mice

decreased circulating glutamic acid level ( J:119973 )

• blood levels of glutamate are markedly lower than in wild-type or heterozygous mice

decreased circulating glutamine level ( J:119973 )

• blood levels of glutamine are markedly lower than in wild-type or heterozygous mice

aminoaciduria ( J:119973 )

• homozygotes have nearly 3-fold increased levels of BCAA in urine compared to wild-type littermates

respiratory system

respiratory distress ( J:119973 )

• on first day after birth, homozygotes display gasping

renal/urinary system

aminoaciduria ( J:119973 )

• homozygotes have nearly 3-fold increased levels of BCAA in urine compared to wild-type littermates

integument

pallor ( J:119973 )

• on first day after birth, homozygotes are pale

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