Phenotypes associated with this allele

• Allele Symbol: Asl^tm1Wjc
• Allele Name: targeted mutation 1, William J Craigen
• Allele ID: MGI:3604881
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Asl^tm1Wjc/Asl^tm1Wjc	involves: 129S7/SvEvBrd	MGI:3605490

Genotype
MGI:3605490

hm1

• Allelic Composition: Asl^tm1Wjc/Asl^tm1Wjc
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

postnatal lethality, complete penetrance ( J:101658 )

• pups die within 48 hours of birth

behavior/neurological

lethargy ( J:101658 )

• pups are less active at the time they stop feeding

• no observable difference in plasma nitrite concentration

abnormal food intake ( J:101658 )

• pups are of normal weight at birth and feed well initially

• pups typically stop feeding within 48 hours of birth

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:101658 )

N • no significant difference in the concentration of cGMP in the urine of mutant mice

abnormal circulating amino acid level ( J:101658 )

• elevated serum levels of argininosuccinic acid, citrulline, and glutamine

decreased circulating arginine level ( J:101658 )

• low serum levels of arginine

• arginine is a precursor in the synthesis of creatine via guanidinoacetate; no concentration differences are apparent in pooled skeletal muscle, heart and liver samples of these three compounds

increased circulating citrulline level ( J:101658 )

• elevated serum levels of citrulline

increased circulating glutamine level ( J:101658 )

• elevated serum levels of glutamine

increased circulating ammonia level ( J:101658 )

• statistically significant increase in plasma ammonia levels

abnormal enzyme/coenzyme activity ( J:101658 )

• reduced levels of arginase activity relative to control liver

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
argininosuccinic aciduria		DOID:14755	OMIM:207900	J:101658