Phenotypes Associated with This Genotype

Genotype
MGI:3052741

• Allelic Composition: Pcca^tm1Tmiy/Pcca^tm1Tmiy
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:71660 )

• die 24-36 hours after birth due to accelerated ketoacidosis

behavior/neurological

absent gastric milk in neonates ( J:71660 )

• no milk intake 10-12 hours after birth

• little or no gastric milk 24 hours after birth

abnormal stationary movement ( J:71660 )

homeostasis/metabolism

dehydration ( J:71660 )

decreased liver glycogen level ( J:71660 )

• disappearance of glycogen in liver between E18.5 and 24 hours after birth

ketoaciduria ( J:71660 )

• ketonuria detected 10 hours after birth

• accumulation of propionyl-CoA

liver/biliary system

decreased liver glycogen level ( J:71660 )

• disappearance of glycogen in liver between E18.5 and 24 hours after birth

hepatic steatosis ( J:71660 )

• significant fat deposition detected between E18.5 and 24 hours after birth

renal/urinary system

ketoaciduria ( J:71660 )

• ketonuria detected 10 hours after birth

• accumulation of propionyl-CoA

dilated kidney collecting duct ( J:71660 )

• enlarged with hyaline droplet casts

renal cast ( J:71660 )

• collecting ducts are enlarged with marked incorporation of hyaline droplet casts

abnormal urination ( J:71660 )

• poor urination

integument

dry skin ( J:71660 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
propionic acidemia		DOID:14701	OMIM:606054	J:71660