Phenotypes associated with this allele

• Allele Symbol: Slc25a32^em2Liliu
• Allele Name: endonuclease-mediated mutation 2, Li Liu
• Allele ID: MGI:7520349
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc25a32^em2Liliu/Slc25a32^em2Liliu	C57BL/6-Slc25a32^em2Liliu	MGI:7520403
ht2	Slc25a32^em1Liliu/Slc25a32^em2Liliu	C57BL/6-Slc25a32^em1Liliu/Slc25a32^em2Liliu	MGI:7520405

Genotype
MGI:7520403

hm1

• Allelic Composition: Slc25a32^em2Liliu/Slc25a32^em2Liliu
• Genetic Background: C57BL/6-Slc25a32^em2Liliu

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

behavior/neurological

behavior/neurological phenotype ( J:338257 )

N • normal gait (no clubfoot)

impaired coordination ( J:338257 )

• trend towards shorter latency to fall in rotarod test

• trend towards lower endurance in hanging wire test

impaired swimming ( J:338257 )

• trend towards lower endurance in forced swimming test

embryo

embryo phenotype ( J:338257 )

N • mice born at normal Mendelian ratios

growth/size/body

growth/size/body region phenotype ( J:338257 )

N • normal body weight and neonatal growth rate

homeostasis/metabolism

decreased circulating carnitine level ( J:338257 )

• decreased levels of free carnitine and specific acylcarnitines

increased circulating carnitine level ( J:338257 )

• elevated levels of specific acylcarnitines

decreased glycine level ( J:338257 )

increased serine level ( J:338257 )

abnormal folic acid level ( J:338257 )

• lower folate intermediate levels in mitochondria

• normal folate uptake by mitochondria

Genotype
MGI:7520405

ht2

• Allelic Composition: Slc25a32^em1Liliu/Slc25a32^em2Liliu
• Genetic Background: C57BL/6-Slc25a32^em1Liliu/Slc25a32^em2Liliu

homeostasis/metabolism

decreased circulating carnitine level ( J:338257 )

• decreased levels of specific acylcarnitines

increased circulating carnitine level ( J:338257 )

• elevated levels of specific acylcarnitines

embryo

embryo phenotype ( J:338257 )

N • mice born at normal Mendelian ratios

growth/size/body

growth/size/body region phenotype ( J:338257 )

N • normal body weight and neonatal growth rate

behavior/neurological

behavior/neurological phenotype ( J:338257 )

N • normal gait (no clubfoot)

N • normal motor function in rotarod and forced swimming tests

impaired coordination ( J:338257 )

• trend towards lower endurance in hanging wire test