Phenotypes Associated with This Genotype

Genotype
MGI:3852334

• Allelic Composition: Slc25a13^tm1Lct/Slc25a13^tm1Lct
• Genetic Background: either: 129/Sv-Slc25a13^tm1Lct or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

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

homeostasis/metabolism

abnormal amino acid level ( J:87578 )

• following treatment with salt or NH4Cl, hepatic ammonia, glutamic acid, and glutamine levels are elevated compared to in similarly treated wild-type mice

• following treatment with NH4Cl, aspartic acid levels are higher than in similarly treated wild-type mice

abnormal gluconeogenesis ( J:87578 )

• when the liver is perfused with lactate, glucose production is reduced compared to in similarly treated wild-type mice

• however, glucose production following hepatic perfusion with pyruvate is normal

abnormal urine homeostasis ( J:87578 )

• following treatment with NH4Cl, mice exhibit reduced urea production compared with similarly treated wild-type mice

• however, urea production can be partially rescued by treatment with asparagine

renal/urinary system

abnormal urine homeostasis ( J:87578 )

• following treatment with NH4Cl, mice exhibit reduced urea production compared with similarly treated wild-type mice

• however, urea production can be partially rescued by treatment with asparagine

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	citrullinemia	DOID:9273		J:87578