Phenotypes associated with this allele

• Allele Symbol: Oxct1^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4364940
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Oxct1^tm1a(KOMP)Wtsi/Oxct1^tm1a(KOMP)Wtsi	C57BL/6-Oxct1^tm1a(KOMP)Wtsi	MGI:4948246

Genotype
MGI:4948246

hm1

• Allelic Composition: Oxct1^{tm1a(KOMP)Wtsi}/Oxct1^{tm1a(KOMP)Wtsi}
• Genetic Background: C57BL/6-Oxct1^{tm1a(KOMP)Wtsi}
• Cell Lines: EPD0082_1_C02

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:170537 )

• no mice are alive at P2

• however, serial administration of NaHCO3 improves survival to P2-P3 and administration of glucose and NaHCO3 further improves survival

homeostasis/metabolism

abnormal autophagy ( J:170537 )

• autophagy in the brain is enhanced compared to in wild-type brains

increased circulating ketone body level ( J:170537 )

• at P0 and P1, mice exhibit progressive hyperketonemia compared with wild-type mice

• mice resuscitated with glucose exhibit refractory hyperketonemia unlike wild-type mice

decreased circulating lactate level ( J:170537 )

• mice exhibit reduced plasma lactate concentrations compared with wild-type mice

abnormal glucose homeostasis ( J:170537 )

• at P0 and P1, glucose oxidation in the brain is higher than in wild-type mice

• however, skeletal muscle glucose oxidation is normal

hypoglycemia ( J:170537 )

acidosis ( J:170537 )

• ketoacidosis

nervous system

abnormal nervous system physiology ( J:170537 )

• at P0 and P1, glucose oxidation in the brain is higher than in wild-type mice

• terminal ketone body oxidation is absent in muscle and brain tissues unlike in wild-type muscle

muscle

abnormal muscle physiology ( J:170537 )

• terminal ketone body oxidation is absent in muscle and brain tissues unlike in wild-type muscle

• at P0, skeletal muscle exhibits increased lactate oxidation compared with wild-type mice

• however, lactate oxidation is normal at P1

cellular

abnormal autophagy ( J:170537 )

• autophagy in the brain is enhanced compared to in wild-type brains