Phenotypes Associated with This Genotype

Genotype
MGI:3850111

• Allelic Composition: Otc^spf/Y
• Genetic Background: Not Specified

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

growth/size/body

decreased body size ( J:23017 )

♂ • seen by 5-7 days after birth

homeostasis/metabolism

abnormal amino acid level ( J:22268 )

♂ • ornithine and citrulline levels are lower in intestinal tissue

abnormal circulating amino acid level ( J:22268 , J:23017 )

♂ • circulating levels of arginine, citrulline and essential amino acids are reduced in suckling mice while plasma glutamine increases after weaning compared to controls (J:22268)

♂ • glutamine concentration is high in the blood while threonine, tyrosine, arginine and citrulline levels are lower than in controls (J:23017)

decreased ornithine level ( J:22268 )

♂ • ornithine levels are lower in intestinal tissue

increased circulating ammonia level ( J:23017 )

♂ • mutants exhibit hyperammonemia (3x higher than in controls) that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine

oroticaciduria ( J:23017 )

♂ • mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine

decreased ornithine carbamoyltransferase activity ( J:22268 , J:23017 )

♂ • reduced activity of ornithine transcarbamylase (Otc) occurs in colon, small intestine, and liver (J:22268)

♂ (J:23017)

abnormal nucleotide metabolism ( J:3633 )

♂ • livers show a 4-fold increase in uridine nucleotides and a 50% decrease in adenosine nucleotides

behavior/neurological

hyperactivity ( J:23017 , J:30359 )

♂ • males are jittery and excited and the total number of entries into an arm of the Y maze is higher than in control males (J:23017)

♂ (J:30359)

abnormal sleep behavior ( J:30359 )

♂ • males with alopecia are somnolent

liver/biliary system

abnormal liver morphology ( J:23017 )

♂ • increase in ammonia and glutamine concentrations in the liver and a decrease in arginine levels

nervous system

abnormal brain morphology ( J:23017 )

♂ • increase in ammonia and glutamine concentrations in the brain and a decrease in arginine levels

♂ • spermidine and N-acetylspermidine concentrations are lower in the brains of mutants than in controls

decreased brain size ( J:48733 )

♂ • 4 week old mutants exhibit a reduced brain size, affecting both the cortex and striatum but showing ventricular enlargement

enlarged brain ventricles ( J:48733 )

♂ • ventricular enlargement is observed in 4 week old mutants

abnormal cerebral cortex pyramidal cell morphology ( J:48733 )

♂ • significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex

abnormal dendrite morphology ( J:48733 )

♂ • significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex

renal/urinary system

oroticaciduria ( J:23017 )

♂ • mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine

orotic acid urinary bladder stones ( J:30359 )

♂ • light brown uroliths (stones) in urinary bladder

♂ • stones consist mostly of orotic acid

integument

alopecia ( J:30359 )

♂

sparse hair ( J:23017 )

♂ • seen by 5-7 days after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ornithine carbamoyltransferase deficiency		DOID:9271	OMIM:311250	J:7789 , J:23017