All Phenotypes Aars1<sti> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aars1^sti/Aars1^sti	B6.Cg-Aars1^sti/J	MGI:3652533
ht2	Aars1^sti/Aars1^tm1Slac	involves: C57BL/6J	MGI:5614645
ht3	Aars1^sti/Aars1^tm1.1Slac	involves: C57BL/6J * FVB/N	MGI:5614646
cx4	Aars1^sti/Aars1^sti Ankrd16^tm1.1Slac/Ankrd16^tm1.1Slac	B6.Cg-Ankrd16^tm1.1Slac Aars1^sti	MGI:6197721
cx5	Aars1^sti/Aars1^sti Ankrd16^{rs251476964-A}/Ankrd16^{rs251476964-G}	involves: C57BL/6J * CASA/RkJ	MGI:6197718
cx6	Aars1^sti/Aars1^sti Ankrd16^{rs251476964-G}/Ankrd16^{rs251476964-G}	involves: C57BL/6J * CAST/Ei	MGI:6197717
cx7	Aars1^sti/Aars1^sti Ankrd16^{rs251476964-A}/Ankrd16^{rs251476964-A}	involves: C57BL/6J * CAST/Ei	MGI:6197719

Allelic Composition	Aars1^sti/Aars1^sti
Genetic Background	B6.Cg-Aars1^sti/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aars1^sti mutation (1 available); any Aars1 mutation (68 available)

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

Aars1^sti/ Aars1^sti

nervous system

nervous system phenotype ( J:220153 )

N	• No changes in microtubule levels are found in Purkinje cells

Purkinje cell degeneration ( J:110647 )

• loss of cells beginning at three weeks of age

• extensive cell loss by six weeks of age especially in rostral cerebellum

behavior/neurological

tremors ( J:110647 )

• mild tremors occur at 6 weeks of age and progress to ataxia

ataxia ( J:110647 )

• progressive ataxia

impaired balance ( J:110647 )

• as demonstrated by rotorod

integument

focal hair loss ( J:110647 )

• patchy hair loss occurs over time

disheveled coat ( J:110647 )

• fur has rough, unkempt, sticky appearance

• electron microscopy indicates short, broken, deformed hair fibers

abnormal hair shaft morphology ( J:110647 )

• hair fibers break at follicular ostium and have cuff of compacted inner root sheath cells

hair follicle outer root sheath hyperplasia ( J:110647 )

• hyperplasia of outer root sheath

hair follicle degeneration ( J:110647 )

• hair fibers twisted within the follicle

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

homeostasis/metabolism

abnormal autophagy ( J:216802 )

cardiovascular system

abnormal myocardial fiber morphology ( J:216802 )

• ubiquitin puncta are present in about 2.4% of cardiomyocytes

• cardiomyocytes exhibit deposition of protein aggregates that disrupt myofibrillar structure and these protein aggregates occur in prefibrotic hearts

• large vacuoles and a reduction in fiber diameter are often seen in ubiquitin aggregate-containing cardiomyocytes

• mitochondria and sarcoplasmic reticulum are abnormal in cardiomyocytes

abnormal myocardial fiber mitochondrial morphology ( J:216802 )

• abnormal mitochondria in cardiomyocytes

myocardial fiber disarray ( J:216802 )

• myofiber disarray in the ventricular myocardium of hearts

small heart ( J:216802 )

• heart is smaller than in single homozygous Aars^sti mice

decreased heart left ventricle posterior wall thickness ( J:216802 )

• hearts exhibit a slight, but significant, reduction in the thickness of the left ventricular posterior wall

cardiac fibrosis ( J:216802 )

• extensive cardiac fibrosis is seen at 4 and 10 months of age

• interstitial and perivascular fibrosis in the left and right ventricular walls and in the interventricular septum

cardiac interstitial fibrosis ( J:216802 )

• in the left and right ventricular walls and in the interventricular septum

abnormal cardiovascular system physiology ( J:216802 )

• less systolic thickening of the left ventricle, indicating myocardial dysfunction

decreased cardiac output ( J:216802 )

• ventricular output, as measured by the ejection fraction and fractional shortening of the left ventricle, are reduced

decreased ventricle muscle contractility ( J:216802 )

• ejection fraction and fractional shortening of the left ventricle are reduced

• however, ventricular arrhythmias are not seen

abnormal myocardial fiber physiology ( J:216802 )

• cardiomyocytes exhibit multilamellar bodies indicative of impaired lysosomal degradation

cellular

abnormal myocardial fiber mitochondrial morphology ( J:216802 )

• abnormal mitochondria in cardiomyocytes

cardiac interstitial fibrosis ( J:216802 )

• in the left and right ventricular walls and in the interventricular septum

abnormal autophagy ( J:216802 )

growth/size/body

decreased body size ( J:216802 )

decreased body weight ( J:216802 )

• decreased body weight at P21 but not P14

integument

alopecia ( J:216802 )

• dorsal alopecia

muscle

abnormal myocardial fiber morphology ( J:216802 )

• ubiquitin puncta are present in about 2.4% of cardiomyocytes

• cardiomyocytes exhibit deposition of protein aggregates that disrupt myofibrillar structure and these protein aggregates occur in prefibrotic hearts

• large vacuoles and a reduction in fiber diameter are often seen in ubiquitin aggregate-containing cardiomyocytes

• mitochondria and sarcoplasmic reticulum are abnormal in cardiomyocytes

abnormal myocardial fiber mitochondrial morphology ( J:216802 )

• abnormal mitochondria in cardiomyocytes

myocardial fiber disarray ( J:216802 )

• myofiber disarray in the ventricular myocardium of hearts

decreased ventricle muscle contractility ( J:216802 )

• ejection fraction and fractional shortening of the left ventricle are reduced

• however, ventricular arrhythmias are not seen

abnormal sarcoplasmic reticulum morphology ( J:216802 )

• disruption of the sarcoplasmic reticulum in cardiomyocytes

nervous system

Purkinje cell degeneration ( J:216802 )

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aars1^sti mutation (1 available); any Aars1 mutation (68 available)
Aars1^tm1.1Slac mutation (0 available); any Aars1 mutation (68 available)

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

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

Allelic Composition	Aars1^sti/Aars1^sti Ankrd16^tm1.1Slac/Ankrd16^tm1.1Slac
Genetic Background	B6.Cg-Ankrd16^tm1.1Slac Aars1^sti

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aars1^sti mutation (1 available); any Aars1 mutation (68 available)
Ankrd16^tm1.1Slac mutation (0 available); any Ankrd16 mutation (25 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:262421 )

• fewer than expected mice are present at E8.5 and E9.5 with no mice at E10.5

Allelic Composition	Aars1^sti/Aars1^sti Ankrd16^{rs251476964-A}/Ankrd16^{rs251476964-G}
Genetic Background	involves: C57BL/6J * CASA/RkJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aars1^sti mutation (1 available); any Aars1 mutation (68 available)
Ankrd16^{rs251476964-A} mutation (0 available); any Ankrd16 mutation (25 available)
Ankrd16^{rs251476964-G} mutation (0 available); any Ankrd16 mutation (25 available)

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

nervous system

nervous system phenotype ( J:262421 )

N	• Background Sensitivity: unlike mice on a congenic C57BL/6J background, mice on a mixed background including CASA/RkJ do not exhibit ataxia or Purkinje cell degeneration

neuron degeneration ( J:262421 )

• in some neurons in the rostral cerebellum

behavior/neurological

behavior/neurological phenotype ( J:262421 )

N	• Background Sensitivity: unlike mice on a congenic C57BL/6J background, mice on a mixed background including CASA/RkJ do not exhibit ataxia or Purkinje cell degeneration

Allelic Composition	Aars1^sti/Aars1^sti Ankrd16^{rs251476964-G}/Ankrd16^{rs251476964-G}
Genetic Background	involves: C57BL/6J * CAST/Ei

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aars1^sti mutation (1 available); any Aars1 mutation (68 available)
Ankrd16^{rs251476964-G} mutation (0 available); any Ankrd16 mutation (25 available)

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

behavior/neurological

behavior/neurological phenotype ( J:262421 )

N	• Background Sensitivity: unlike mice on a congenic C57BL/6J background, mice on a mixed background including CAST/Ei do not exhibit ataxia or Purkinje cell degeneration

nervous system

nervous system phenotype ( J:262421 )

N	• Background Sensitivity: unlike mice on a congenic C57BL/6J background, mice on a mixed background including CAST/Ei do not exhibit ataxia or Purkinje cell degeneration

Allelic Composition	Aars1^sti/Aars1^sti Ankrd16^{rs251476964-A}/Ankrd16^{rs251476964-A}
Genetic Background	involves: C57BL/6J * CAST/Ei

Find Mice

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

behavior/neurological

ataxia ( J:262421 )

nervous system

Purkinje cell degeneration ( J:262421 )

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