Phenotypes Associated with This Genotype

Genotype
MGI:3851105

• Allelic Composition: Otc^spf/Y
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

mortality/aging

premature death ( J:31237 )

♂ • mean life span is 42 days with 93% mortality by day 88

growth/size/body

decreased body size ( J:31237 )

♂ • smaller by 1 week of age

weight loss ( J:31237 )

♂ • 1-3 days before death, mutants exhibit substantial weight loss

homeostasis/metabolism

decreased circulating arginine level ( J:31237 )

♂ • plasma arginine is reduced

decreased circulating citrulline level ( J:31237 )

♂ • plasma citrulline is 25% of control levels

increased circulating glutamine level ( J:31237 )

♂ • plasma glutamine is 160% of control values

decreased circulating ornithine level ( J:31237 )

♂ • plasma ornithine is reduced

increased circulating ammonia level ( J:31237 )

♂ • plasma ammonium levels are increased

oroticaciduria ( J:31237 )

♂ • urinary orotate excretion is elevated 13-fold

behavior/neurological

abnormal eating behavior ( J:31237 )

♂ • 1-3 days before death, mutants exhibit decreased feeding

decreased grooming behavior ( J:31237 )

♂ • 1-3 days before death, mutants exhibit a decrease in grooming that leads to an unkempt coat appearance

tremors ( J:31237 )

♂ • some moribund mice develop ataxic tremor

decreased locomotor activity ( J:31237 )

♂ • 1-3 days before death, mutants exhibit a decrease in activity

circling ( J:31237 )

♂ • some moribund mice develop rapid circling behavior

tonic-clonic seizures ( J:31237 )

♂ • some moribund mice develop tonic-clonic seizures

nervous system

tonic-clonic seizures ( J:31237 )

♂ • some moribund mice develop tonic-clonic seizures

renal/urinary system

oroticaciduria ( J:31237 )

♂ • urinary orotate excretion is elevated 13-fold

reproductive system

priapism ( J:31237 )

♂ • one-fifth of males remain runted, hairless and develop priapism

integument

sparse hair ( J:31237 )

♂ • mutants have less fur by 1 week of age

wrinkled skin ( J:31237 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ornithine carbamoyltransferase deficiency		DOID:9271	OMIM:311250	J:31237