Phenotypes Associated with This Genotype

Genotype
MGI:5289692

• Allelic Composition: Slc6a19^tm1Dgen/Slc6a19^tm1Dgen
• Genetic Background: involves: 129 * C57BL/6J

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

Decreased body weight in Slc6a19^tm1Dgen mice

growth/size/body

decreased lean body mass ( J:175382 )

• when fed a low protein diet

decreased body size ( J:175382 )

decreased body weight ( J:175382 )

• by 12 weeks of age

weight loss ( J:175382 )

• when fed a low or high protein diet

digestive/alimentary system

digestive/alimentary phenotype ( J:175382 )

N • mice exhibit normal intestine morphology

abnormal intestine physiology ( J:175382 )

• mice exhibit decreased sodium-dependent leucine uptake in sections of inverted intestine compared to in wild-type mice

homeostasis/metabolism

aminoaciduria ( J:175382 )

• alanine, asparagine, glycine, glutamine, isoleucine, methionine, phenylalanine, serine, threonine, and tyrosine are increased in the urine compared to in wild-type mice

alaninuria ( J:175382 )

hyperglutaminuria ( J:175382 )

hyperglycinuria ( J:175382 )

methioninuria ( J:175382 )

phenylalaninuria ( J:175382 )

hyperthreoninuria ( J:175382 )

decreased circulating insulin level ( J:175382 )

• upon refeeding after fasting

insulin resistance ( J:175382 )

• mice exhibit a blunted plasma insulin response to feeding-fasting cycle compared with wild-type mice

renal/urinary system

aminoaciduria ( J:175382 )

• alanine, asparagine, glycine, glutamine, isoleucine, methionine, phenylalanine, serine, threonine, and tyrosine are increased in the urine compared to in wild-type mice

alaninuria ( J:175382 )

hyperglutaminuria ( J:175382 )

hyperglycinuria ( J:175382 )

methioninuria ( J:175382 )

phenylalaninuria ( J:175382 )

hyperthreoninuria ( J:175382 )

abnormal renal transport ( J:175382 )

• renal brush-border membrane vesicles (BBMVs) fail to exhibit sodium-dependent leucine uptake compared with wild-type cells

• renal BBMVs exhibit reduced sodium dependent glutamine, histidine, tryptophan, glucose, and carosine compared with wild-type cells

• renal BBMVs exhibit increased sodium-independent glutamine uptake compared with wild-type cells

adipose tissue

decreased total body fat amount ( J:175382 )

• when fed a high protein diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hartnup disease		DOID:1060	OMIM:234500	J:175382