Phenotypes associated with this allele

• Allele Symbol: Cluh^tm1.1Eir
• Allele Name: targeted mutation 1.1, Elena I Rugarli
• Allele ID: MGI:6119580
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cluh^tm1.1Eir/Cluh^tm1.1Eir Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: BALB/cJ * C57BL/6 * DBA * SJL	MGI:6119620

Genotype
MGI:6119620

cn1

• Allelic Composition: Cluh^tm1.1Eir/Cluh^tm1.1Eir; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: involves: BALB/cJ * C57BL/6 * DBA * SJL

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

homeostasis/metabolism

abnormal homeostasis ( J:249661 )

• accumulation of beta-aminoisobutyric acid (BAIB) after 24 hours of starvation

• severely impaired production of ketone body beta-hydroxybutyrate after 24 hours of starvation

• increased lipid droplet levels in liver after 24 hours of starvation

abnormal circulating amino acid level ( J:249661 )

• increased levels of proline, serine, threonine, methionine, and lysine in serum after 24 hours of starvation

increased circulating lysine level ( J:249661 )

• increased lysine level in serum after 24 hours of starvation

increased circulating methionine level ( J:249661 )

• increased methionine level in serum after 24 hours of starvation

increased circulating proline level ( J:249661 )

• increased proline level in serum after 24 hours of starvation

increased circulating serine level ( J:249661 )

• increased serine level in serum after 24 hours of starvation

increased circulating threonine level ( J:249661 )

• increased threonine level in serum after 24 hours of starvation

decreased fasting circulating glucose level ( J:249661 )

• after 24 hours of starvation

hypoglycemia ( J:249661 )

increased circulating alanine transaminase level ( J:249661 )

• slight increase in serum at age 8 weeks

liver/biliary system

liver/biliary system phenotype ( J:249661 )

N • no liver fibrosis or inflammation

abnormal hepatocyte mitochondrial morphology ( J:249661 )

• mitochondrial clustering in liver at age 8 weeks

abnormal liver physiology ( J:249661 )

• increased lipid droplet levels in liver after 24 hours of starvation

• depletion of alanine-glyoxylate aminotransferase 2 (Agxt2) after 24 hours of starvation

• severely impaired production of ketone body beta-hydroxybutyrate after 24 hours of starvation

• accumulation of beta-aminoisobutyric acid (BAIB) after 24 hours of starvation

cellular

abnormal hepatocyte mitochondrial morphology ( J:249661 )

• mitochondrial clustering in liver at age 8 weeks

increased apoptosis ( J:249661 )

• trend to increase in apoptotic cells in liver at age 8 weeks

abnormal cellular respiration ( J:249661 )

• reduction in rate of maximal respiration after dissipation of membrane potential with carbonyl cyanide m-chlorophenyl hydrazone (CCCP)

adipose tissue

increased brown fat lipid droplet number ( J:249661 )

• in liver after 24 hours of starvation