Phenotypes Associated with This Genotype

Genotype
MGI:3707513

• Allelic Composition: Ass1^fold/Ass1^fold
• Genetic Background: B6Ei.P-Ass1^fold/GrsrJ

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

Small body size, lack of hair, and wrinkled skin in one week old Ass1^fold/Ass1^fold(right) mice

mortality/aging

premature death ( J:165341 )

growth/size/body

decreased body length ( J:165341 )

behavior/neurological

tremors ( J:165341 )

abnormal gait ( J:165341 )

• unstable gait

homeostasis/metabolism

abnormal circulating amino acid level ( J:165341 )

• P14 and P21 mice show a 10- to 40-fold increase in the levels of citrulline, and a 1.5- to threefold increase in the plasma levels of many amino acids, including glutamine, cystine, methionine, and lysine and arginine, glutamic acid, leucine, and ornithine levels are decreased

increased circulating citrulline level ( J:165341 )

• P14 and P21 mice show a 10- to 40-fold increase in plasma citrulline levels

increased circulating ammonia level ( J:165341 )

• Plasma ammonia concentration at P14 is elevated

abnormal enzyme/coenzyme activity ( J:165341 )

• argininosuccinate synthetase 1 activity is significantly decreased in liver

nervous system

abnormal cerebellar granule cell migration ( J:165341 )

• granule cell migration appears to be delayed by several days

decreased brain weight ( J:165341 )

cellular

abnormal cerebellar granule cell migration ( J:165341 )

• granule cell migration appears to be delayed by several days

oxidative stress ( J:165341 )

• decreased immunohistochemical staining for nitrotyrosine in cerebellum compared to wild-type , correlating with decreased superoxide or NO radical formation

integument

delayed hair appearance ( J:165341 )

sparse hair ( J:165341 )

• enough hair grows in by 3 weeks of age for a sparse coat

abnormal hair follicle morphology ( J:165341 )

• follicular dystrophy

hyperkeratosis ( J:165341 )

epidermal hyperplasia ( J:165341 )

wrinkled skin ( J:165341 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
citrullinemia		DOID:9273		J:165341