Phenotypes associated with this allele

• Allele Symbol: Aars1^tm1.1Slac
• Allele Name: targeted mutation 1.1, Susan L Ackerman
• Allele ID: MGI:5614439
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aars1^tm1.1Slac/Aars1^tm1.1Slac	involves: C57BL/6J * FVB/N	MGI:5614644
ht2	Aars1^tm1.1Slac/Aars1^+	involves: C57BL/6J * FVB/N	MGI:5614643
ht3	Aars1^sti/Aars1^tm1.1Slac	involves: C57BL/6J * FVB/N	MGI:5614646

Genotype
MGI:5614644

hm1

• Allelic Composition: Aars1^tm1.1Slac/Aars1^tm1.1Slac
• Genetic Background: involves: C57BL/6J * FVB/N

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

mortality/aging

embryonic lethality prior to organogenesis, complete penetrance ( J:216802 )

• no viable E8.5 or E9.5 embryos are seen and 26% of decidua from heterozygous matings at E8.5/9.5 contain embryos that are too reabsorbed for genotyping, suggesting that homozygotes die at an earlier stage

Genotype
MGI:5614643

ht2

• Allelic Composition: Aars1^tm1.1Slac/Aars1⁺
• Genetic Background: involves: C57BL/6J * FVB/N

nervous system

Purkinje cell degeneration ( J:216802 )

• aged mice show mild loss of cerebellar Purkinje cells

Genotype
MGI:5614646

ht3

• Allelic Composition: Aars1^sti/Aars1^tm1.1Slac
• Genetic Background: involves: C57BL/6J * FVB/N

cardiovascular system

abnormal myocardial fiber morphology ( J:216802 )

• ubiquitin and p62-positive puncta are seen in cardiomyocytes

cardiac fibrosis ( J:216802 )

• widespread myocardial fibrosis at 4 months of age

growth/size/body

decreased body size ( J:216802 )

• small body size

integument

alopecia ( J:216802 )

• dorsal alopecia

muscle

abnormal myocardial fiber morphology ( J:216802 )

• ubiquitin and p62-positive puncta are seen in cardiomyocytes