Phenotypes associated with this allele

• Allele Symbol: Slc25a32^em3Liliu
• Allele Name: endonuclease-mediated mutation 3, Li Liu
• Allele ID: MGI:7520351
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc25a32^em3Liliu/Slc25a32^em3Liliu	C57BL/6-Slc25a32^em3Liliu	MGI:7520407

Genotype
MGI:7520407

hm1

• Allelic Composition: Slc25a32^em3Liliu/Slc25a32^em3Liliu
• Genetic Background: C57BL/6-Slc25a32^em3Liliu

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

mortality/aging

embryonic lethality, complete penetrance ( J:338257 )

• no mice born

homeostasis/metabolism

abnormal homeostasis ( J:338257 )

• 30% reduction in formate level in E11.5 embryos

decreased circulating carnitine level ( J:338257 )

• decreased levels of free carnitine and specific acylcarnitines in E11.5 embryos

increased circulating carnitine level ( J:338257 )

• elevated levels of specific acylcarnitines in E11.5 embryos

increased glycine level ( J:338257 )

• 3x increase in E11.5 embryos

increased serine level ( J:338257 )

• in E11.5 embryos

abnormal folic acid level ( J:338257 )

• significant increase in DHF, THF, CH-THF and CH2-THF levels in E11.5 embryos, partially mitigated by maternal sodium formate administration

• significant decrease in CH3-THF levels in E11.5 embryos, partially mitigated by maternal sodium formate administration

growth/size/body

embryonic growth retardation ( J:338257 )

• severe in E11.5 embryos

embryo

embryonic growth retardation ( J:338257 )

• severe in E11.5 embryos

craniorachischisis ( J:338257 )

• in E11.5 embryos, partially mitigated by maternal sodium formate administration

nervous system

craniorachischisis ( J:338257 )

• in E11.5 embryos, partially mitigated by maternal sodium formate administration

exencephaly ( J:338257 )

• in E11.5 embryos, partially mitigated by maternal sodium formate administration