Phenotypes Associated with This Genotype

Genotype
MGI:4830506

• Allelic Composition: Otc^spf-J/Y
• Genetic Background: C57BL/6J-Otc^spf-J/J

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

Small size and coat abnormalities in Otc^spf-J/Y mice at 4 weeks of age disappear by 12 weeks of age

integument

abnormal coat/hair pigmentation ( J:226209 )

♂ • fur is grey at 4 weeks of age but by 12 weeks, coat color is similar to wild-type mice

sparse hair ( J:30778 , J:226209 )

♂ • compared with heterozygous females and normal littermates (J:30778)

♂ • coat is patchy at 4 weeks of age but by 12 weeks of age, coat density becomes similar to wild-type mice (J:226209)

growth/size/body

decreased body size ( J:226209 )

♂ • mice are smaller at 4 weeks of age but by 12 weeks of age, they are similar in size to wild-type mice

homeostasis/metabolism

abnormal amino acid level ( J:226209 )

♂ • in the liver, aspartate, and glutamic acid are decreased, while ornithine is mildly decreased

♂ • in the cerebrum, 12 of 20 amino acids measured are increased, including glycine and glutamine, indicating altered cerebral amino acid metabolism or transport

♂ • following polyinosinic:polycytidylic acid (poly I:C) challenge to simulate viral infection, mice show a general decrease in many cerebral amino acids including valine, serine, phenylalanine, lysine, leucine, isoleucine, histidine, glutamine, glutamic acid, and arginine compared to wild-type mice

abnormal blood homeostasis ( J:226209 )

♂ • urea cycle intermediates ornithine, citrulline, and arginine are lower in the blood, indicating a proximal urea cycle defect

♂ • mice maintained on a high protein diet for 2 weeks exhibit a 2.5-3x increase in plasma orotate levels, but not plasma ammonia levels

♂ • mice on a regular chow diet show normal levels of plasma ammonia and plasma orotate

abnormal circulating amino acid level ( J:226209 )

♂ • glutamate is mildly increased in the blood

♂ • branched chain amino acids valine, leucine, and isoleucine are decreased in the blood

♂ • following polyinosinic:polycytidylic acid (poly I:C) challenge to simulate viral infection, mice show a greater increase in glutamic acid levels in the blood over baseline

pigmentation

abnormal coat/hair pigmentation ( J:226209 )

♂ • fur is grey at 4 weeks of age but by 12 weeks, coat color is similar to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ornithine carbamoyltransferase deficiency		DOID:9271	OMIM:311250	J:226209