Phenotypes associated with this allele

• Allele Symbol: Nsun4^tm1.2Arte
• Allele Name: targeted mutation 1.2, TaconicArtemis
• Allele ID: MGI:5618266
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nsun4^tm1.2Arte/Nsun4^tm1.2Arte	involves: C57BL/6 * FVB/N * SJL	MGI:6294481
cn2	Nsun4^tm1.2Arte/Nsun4^tm1.2Arte Tg(Ckmm-cre)5Khn/0	involves: C57BL/6 * FVB/N * SJL	MGI:6294482

Genotype
MGI:6294481

hm1

• Allelic Composition: Nsun4^tm1.2Arte/Nsun4^tm1.2Arte
• Genetic Background: involves: C57BL/6 * FVB/N * SJL

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

embryo

embryonic growth retardation ( J:211012 )

• severely retarded growth with no clearly discernible anatomical structures at age E8.5

growth/size/body

embryonic growth retardation ( J:211012 )

• severely retarded growth with no clearly discernible anatomical structures at age E8.5

mortality/aging

embryonic lethality, complete penetrance ( J:211012 )

• no mice born

• severely retarded growth with no clearly discernible anatomical structures at age E8.5

Genotype
MGI:6294482

cn2

• Allelic Composition: Nsun4^tm1.2Arte/Nsun4^tm1.2Arte; Tg(Ckmm-cre)5Khn/0
• Genetic Background: involves: C57BL/6 * FVB/N * SJL

cardiovascular system

increased heart weight ( J:211012 )

• heart-to-body weight ratio increases with age

cellular

increased mitochondrial DNA content ( J:211012 )

• increased mitochondrial mass as indicated by increased mtDNA level in heart at age 20 weeks

abnormal mitochondrial physiology ( J:211012 )

• strong increase in mitochondrial de novo transcription and steady-state transcript levels in heart

• strong inhibition of translation and severely reduced levels of assembled ribosomes in heart

• severely reduced ribosome self-assembly in heart

abnormal oxidative phosphorylation ( J:211012 )

• drastically reduced steady-state levels of assembled OXPHOS complexes containing mtDNA-encoded polypeptides in heart mitochondria from age 20 weeks

• unchanged steady-state levels of assembled OXPHOS complexes containing mtDNA-encoded polypeptides in heart mitochondria at age 5 weeks

• steady-state levels of complex II

mortality/aging

premature death ( J:211012 )

• mice die before age 25 weeks

growth/size/body

increased heart weight ( J:211012 )

• heart-to-body weight ratio increases with age