Phenotypes Associated with This Genotype

Genotype
MGI:2655192

• Allelic Composition: Slc1a1^tm1Wst/Slc1a1^tm1Wst
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

behavior/neurological

behavior/neurological phenotype ( J:41613 )

N • there were no obvious neurological disorders in the first 12 months of life

N • learning was not affected as indicated by a water maze test

N • motor coordination was normal

decreased locomotor activity ( J:41613 )

• only about half normal level of motor activity

• shorter bursts of activity and longer stretches of inactivity

homeostasis/metabolism

dicarboxylic aciduria ( J:41613 )

• mice develop dicarboxylic aminoaciduria

• although plasma amino acid levels are normal, excretion of glutamate is increased 1400X and excretion of aspartate is increased 10X

renal/urinary system

dicarboxylic aciduria ( J:41613 )

• mice develop dicarboxylic aminoaciduria

• although plasma amino acid levels are normal, excretion of glutamate is increased 1400X and excretion of aspartate is increased 10X

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dicarboxylic aminoaciduria		DOID:0060650	OMIM:222730	J:41613