Phenotypes Associated with This Genotype

Genotype
MGI:4838091

• Allelic Composition: Ass1^bar/Ass1^fold
• Genetic Background: involves: C57BL/6Ei * C57BL/6J * OF1 * P/J

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

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 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

abnormal cerebellum external granule cell layer morphology ( J:165341 )

• reduced cellularity

decreased brain weight ( J:165341 )

abnormal cerebellar granule layer morphology ( J:165341 )

• reduced cellularity

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 )

cellular

abnormal cerebellar granule cell migration ( J:165341 )

• granule cell migration appears to be delayed by several days

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