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Phenotypes Associated with This Genotype
Genotype
MGI:3704912
Allelic
Composition
Dbttm1Geh/Dbttm1Geh
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dbttm1Geh mutation (1 available); any Dbt mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• blood levels of glutamate are markedly lower than in wild-type or heterozygous mice

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

behavior/neurological
• on first day after birth, homozygotes become lethargic

homeostasis/metabolism
• 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
• blood levels of alanine are markedly lower than in wild-type or heterozygous mice
• blood levels of glutamate are markedly lower than in wild-type or heterozygous mice
• blood levels of glutamine are markedly lower than in wild-type or heterozygous mice
• homozygotes have nearly 3-fold increased levels of BCAA in urine compared to wild-type littermates

respiratory system
• on first day after birth, homozygotes display gasping

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

integument
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/05/2019
MGI 6.13
The Jackson Laboratory