Phenotypes Associated with This Genotype

Genotype
MGI:2668857

• Allelic Composition: Arg1^tm1Rki/Arg1^tm1Rki
• Genetic Background: Not Specified

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

mortality/aging

postnatal lethality, complete penetrance ( J:83263 )

• die at postnatal day 10-14

homeostasis/metabolism

abnormal homeostasis ( J:83263 )

• total kidney arginase activity levels normal; ARG2 levels are thought to be induced two-fold in these mice

abnormal circulating amino acid level ( J:83263 )

• elevated plasma glutamic acid, citrulline and histidine levels: about 1.5 fold greater than the wild-type level

• reduced plasma valine, isoleucine and leucine levels: 0.4 to 0.5 of the level of wild-type

increased circulating arginine level ( J:83263 )

• elevated plasma arginine levels: four fold greater than the level of wild-type

increased circulating citrulline level ( J:83263 )

• elevated plasma citrulline levels

increased circulating histidine level ( J:83263 )

• elevated plasma histidine levels

decreased circulating ornithine level ( J:83263 )

• reduced plasma ornithine levels: one half of the level of wild-type

decreased circulating proline level ( J:83263 )

• reduced plasma proline levels: one third of the level of wild-type

increased circulating ammonia level ( J:83263 )

• plasma ammonia levels are increased 10 fold in mice exhibiting metabolic crisis

liver/biliary system

abnormal hepatobiliary system morphology ( J:83263 )

abnormal liver morphology ( J:83263 )

enlarged liver ( J:83263 )

abnormal hepatocyte morphology ( J:83263 )

• nuclei and cytoplasm enlarged two to three fold in most cells; cytoplasmic inclusions also noted as well as other abnormalities; abnormal nuclei

pale liver ( J:83263 )

nervous system

nervous system phenotype ( J:83263 )

N • normal brain morphology; no astrocyte defects noted

growth/size/body

enlarged liver ( J:83263 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperargininemia		DOID:9278	OMIM:207800	J:83263