Phenotypes associated with this allele

• Allele Symbol: Slc38a3^m1Ingm
• Allele Name: mutation 1, Ingenium Pharmaceuticals AG
• Allele ID: MGI:5790979
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc38a3^m1Ingm/Slc38a3^m1Ingm	B6.C3Fe-Slc38a3^m1Ingm	MGI:5790982

Genotype
MGI:5790982

hm1

• Allelic Composition: Slc38a3^m1Ingm/Slc38a3^m1Ingm
• Genetic Background: B6.C3Fe-Slc38a3^m1Ingm

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

mortality/aging

postnatal lethality, complete penetrance ( J:234835 )

• mice die between 18 and 20 days after birth

growth/size/body

decreased body size ( J:234835 )

decreased body weight ( J:234835 )

• at P14

behavior/neurological

lethargy ( J:234835 )

ataxia ( J:234835 )

• mice display a form of ataxia; altered, uncoordinated gait

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:234835 )

N • mice exhibit normal plasma ammonium levels

abnormal amino acid level ( J:234835 )

• decreased liver levels of alanine and asparagine

• decreased hepatic concentrations of tryptophane

abnormal circulating amino acid level ( J:234835 )

• increased circulating carnosine compared with wild-type mice

• decreased circulating tryptophan compared with wild-type mice

decreased circulating alanine level ( J:234835 )

increased circulating cysteine level ( J:234835 )

increased circulating histidine level ( J:234835 )

increased circulating homocysteine level ( J:234835 )

increased circulating leucine level ( J:234835 )

increased circulating threonine level ( J:234835 )

decreased circulating tyrosine level ( J:234835 )

decreased gamma-aminobutyric acid level ( J:234835 )

• decreased brain levels of GABA

decreased glutamic acid level ( J:234835 )

• decreased brain levels of glutamate

• decreased liver levels of glutamate

• decreased glutamate levels in the kidney

decreased glutamine level ( J:234835 )

• decreased liver levels of glutamine

• decreased glutamine levels in the kidney

increased glutamine level ( J:234835 )

• increased brain levels of glutamine

decreased leucine level ( J:234835 )

• decreased hepatic concentrations of leucine

decreased phenylalanine level ( J:234835 )

• decreased hepatic concentrations of phenylalanine

decreased urine ammonia level ( J:234835 )

increased blood urea nitrogen level ( J:234835 )

decreased circulating glucose level ( J:234835 )

• decreased plasma glucose in ad libitum feeding mice

decreased circulating insulin level ( J:234835 )

• decreased plasma insulin concentration in ad libitum feeding mice

abnormal insulin-like growth factor I level ( J:234835 )

• downregulated IGF1 mRNA level in liver tissue

decreased urine urea nitrogen level ( J:234835 )

renal/urinary system

decreased urine ammonia level ( J:234835 )

decreased urine urea nitrogen level ( J:234835 )