Phenotypes associated with this allele

• Allele Symbol: Tfam^tm1.1Lrsn
• Allele Name: targeted mutation 1.1, Nils-Goran Larsson
• Allele ID: MGI:1860956
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tfam^tm1.1Lrsn/Tfam^tm1.1Lrsn	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:2177633

Genotype
MGI:2177633

hm1

• Allelic Composition: Tfam^tm1.1Lrsn/Tfam^tm1.1Lrsn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

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

Tfam^tm1.1Lrsn/Tfam^tm1.1Lrsn mice display massive apoptosis at E9.5

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:46387 )

• at E10.5

cardiovascular system

abnormal heart development ( J:46387 )

• absence of recognizable cardiac structures

embryo

abnormal somite development ( J:46387 )

• described as indistinct

growth/size/body

decreased body size ( J:46387 )

• runted, smaller size

vision/eye

absent optic nerve ( J:46387 )

• absent optic discs

nervous system

absent optic nerve ( J:46387 )

• absent optic discs

abnormal nervous system physiology ( J:46387 )

• delayed neural development

cellular

decreased mitochondrial DNA content ( J:46387 )

• mitochondial DNA appeared to be absent

disorganized mitochondrial cristae ( J:46387 )

• disorganized cristae in enlarged mitochondria

increased mitochondrial size ( J:46387 )

• enlarged with disorganized cristae

increased apoptosis ( J:125471 )

• mice show massive apoptosis at E9.5

abnormal mitochondrial ATP synthesis coupled electron transport ( J:125471 )

• impairment of oxidative phosphorylation with no functional respiratory chain