Phenotypes associated with this allele

• Allele Symbol: Ass1^tm1Bay
• Allele Name: targeted mutation 1, Baylor College of Medicine
• Allele ID: MGI:1857131
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ass1^tm1Bay/Ass1^tm1Bay	involves: 129S7/SvEvBrd * C57BL/6J	MGI:2653766
ht2	Ass1^tm1Bay/Ass1^+	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3033443

Genotype
MGI:2653766

hm1

• Allelic Composition: Ass1^tm1Bay/Ass1^tm1Bay
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:18326 )

• homozygous mutant mice stop gaining weight at about 10 hours after birth, and usually die prior to 24 hours after birth

homeostasis/metabolism

abnormal circulating amino acid level ( J:18326 )

• 16-hr-old homozygous mutant mice display an overall 2- to 4-fold increase in the plasma levels of almost all amino acids

• notably, 16-hr-old homozygous mutant mice display a 30-fold increase in aspartic acid, an effect not observed in humans with citrullinemia

decreased circulating arginine level ( J:18326 )

• 16-hr-old homozygous mutant mice display a decreased level of arginine

increased circulating citrulline level ( J:18326 )

• 16-hr-old homozygous mutant mice display a significantly higher plasma concentration of citrulline

increased circulating ammonia level ( J:18326 )

• 16- to 19-hr-old homozygous mutant mice have a plasma ammonia concentration that is 16 times greater that of wild-type siblings

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
citrullinemia		DOID:9273		J:18326

Genotype
MGI:3033443

ht2

• Allelic Composition: Ass1^tm1Bay/Ass1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

homeostasis/metabolism

increased circulating citrulline level ( J:18326 )

• 16-hr-old heterozygous mutant mice display a 2-fold increase in the plasma citrulline level over that detected in wild-type siblings, an effect not observed in humans or in cattle with citrullinemia

• 16-hr-old heterozygous mutant mice have normal plasma concentrations of other amino acids