Phenotypes Associated with This Genotype

Genotype
MGI:3641098

• Allelic Composition: Cps1^tm1Mw/Cps1^tm1Mw
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:52334 )

• homozygotes do not survive beyond 36 hours after birth

homeostasis/metabolism

increased circulating ammonia level ( J:52334 )

• at 12 hours after birth, homozygotes exhibit a large increase in blood ammonia levels, but hepatocyte mitochondrial morphology was unaffected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
carbamoyl phosphate synthetase I deficiency disease		DOID:9280	OMIM:237300	J:52334