Phenotypes associated with this allele

• Allele Symbol: Aass^em2Guow
• Allele Name: endonuclease-mediated mutation 2, Weixiang Guo
• Allele ID: MGI:8398192
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aass^em2Guow/Aass^em2Guow	C57BL/6-Aass^em2Guow	MGI:8398303

Genotype
MGI:8398303

hm1

• Allelic Composition: Aass^em2Guow/Aass^em2Guow
• Genetic Background: C57BL/6-Aass^em2Guow

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

cellular

decreased cellular ATP level ( J:271165 )

• in hepatocytes

abnormal hepatocyte mitochondrial morphology ( J:271165 )

• enlarged and with damaged cristae

disorganized mitochondrial cristae ( J:271165 )

• in hepatocytes

increased mitochondrial size ( J:271165 )

• in hepatocytes

growth/size/body

postnatal growth retardation ( J:271165 )

• growth retardation till death at age 6 weeks

enlarged liver ( J:271165 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:271165 )

N • normal creatine kinase, lactate dehydrogenase, alpha-hydroxybutyrate dehydrogenase and creatine kinase-MB blood levels

decreased cellular ATP level ( J:271165 )

• in hepatocytes

increased lysine level ( J:271165 )

• increased levels of lysine and saccharopine in liver and blood

increased circulating lysine level ( J:271165 )

• increased levels of lysine and saccharopine

increased circulating alanine transaminase level ( J:271165 )

increased circulating aspartate transaminase level ( J:271165 )

liver/biliary system

abnormal hepatocyte mitochondrial morphology ( J:271165 )

• enlarged and with damaged cristae

enlarged liver ( J:271165 )

hepatic megalocytosis ( J:271165 )

mortality/aging

lethality, complete penetrance ( J:271165 )

• mice die by age 6 weeks