Phenotypes Associated with This Genotype

Genotype
MGI:3850972

• Allelic Composition: Ppm1k^tm1Yiwa/Ppm1k^tm1Yiwa
• Genetic Background: involves: 129/Sv * C57BL/6

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:150451 )

• pups of mothers fed a high-protein diet exhibit postnatal lethality

homeostasis/metabolism

abnormal circulating amino acid level ( J:150451 )

• plasma levels of branched chain amino acids is increased compared to in wild-type mice

• administration of leucine following starvation results in a 2-fold increase in plasma branched-chain amino acids compared to in similarly treated wild-type mice

cellular

oxidative stress ( J:150451 )

• reactive oxygen species and superoxide concentrations in mouse embryonic fibroblasts are increased compared to in wild-type cells

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:150451