Phenotypes Associated with This Genotype

Genotype
MGI:5427005

• Allelic Composition: Nags^{tm1(KOMP)Vlcg}/Nags^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6N * Swiss Webster

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

mortality/aging

mortality/aging ( J:184448 )

N • when mothers are maintained on N-carbamyl-L-glutamate (NCG) and L-citrulline (Cit) supplementation no prenatal lethality is seen

lethality, incomplete penetrance ( J:184448 )

• in supplemented adult mice removal of Cit reduces survival

postnatal lethality, complete penetrance ( J:184448 )

• pups from supplemented mothers die within 24-48 h of birth in the absence of intervention

• daily intraperitoneal injection of NCG and Cit followed by water based NCG and Cit supplementation allows most (85%) mice to survive and reproduce

• without Cit about 50% of pups die before weaning

homeostasis/metabolism

abnormal circulating amino acid level ( J:184448 )

• increased glutamate levels in supplemented mice

• mice deprived of NCG and Cit supplementation display decreased levels of plasma arginine, citrulline, ornithine, proline and alanine and increased levels of glutamine, glutamate and lysine

decreased circulating citrulline level ( J:184448 )

• mice deprived of NCG and Cit supplementation display decreased levels of plasma citrulline

increased circulating ammonia level ( J:184448 )

• all mice deprived of NCG and Cit supplementation develop severe hyperammonemia with symptoms appearing by 10 to 28 h of supplementation withdrawal

growth/size/body

decreased body weight ( J:184448 )

• during the preweaning period in supplemented mice

integument

sparse hair ( J:184448 )

• some supplemented adult mice appear to have less hair