Phenotypes associated with this allele

• Allele Symbol: Fxn^em8Lutzy
• Allele Name: endonuclease-mediated mutation 8, Cathy Lutz
• Allele ID: MGI:7616951
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fxn^em8Lutzy/Fxn^em8Lutzy	C57BL/6J-Fxn^em8Lutzy	MGI:7628165

Genotype
MGI:7628165

hm1

• Allelic Composition: Fxn^em8Lutzy/Fxn^em8Lutzy
• Genetic Background: C57BL/6J-Fxn^em8Lutzy

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

cellular

abnormal mitochondrial chromosome morphology ( J:299300 )

• excessive DNA lesions in late passage MEFs

decreased mitochondrial size ( J:299300 )

• reduced mitochondrial network filament length in late passage MEFs

increased mitochondrial number ( J:299300 )

• in late passage MEFs

abnormal cell cycle ( J:299300 )

• fewer cells actively dividing amongst synchronized MEFs in vitro

decreased fibroblast proliferation ( J:299300 )

• double population doubling time of MEFs in vitro

early cellular replicative senescence ( J:299300 )

• of MEFs in vitro

abnormal mitochondrial physiology ( J:299300 )

• reduced maximal respiration and oxygen consumption rates in late passage MEFs after etomoxir treatment

• normal basal and maximal respiration and oxygen consumption rates in early and late passage MEFs, either unchallenged or with exogenous palmitate after depletion of endogenous fatty acids

mortality/aging

preweaning lethality, incomplete penetrance ( J:299300 )

• post-weaning population from het x het cross only 9% homozygous mutant

• normal Mendelian ratio in embryos

growth/size/body

decreased embryo weight ( J:299300 )

• in late-stage embryos

embryo

decreased embryo weight ( J:299300 )

• in late-stage embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Friedreich ataxia		DOID:12705		J:299300