Phenotypes associated with this allele

• Allele Symbol: Slc6a6^tm1Jaz
• Allele Name: targeted mutation 1, Junichi Azuma
• Allele ID: MGI:3793961
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc6a6^tm1Jaz/Slc6a6^tm1Jaz	involves: 129S2/SvPas * C57BL/6	MGI:3793962

Genotype
MGI:3793962

hm1

• Allelic Composition: Slc6a6^tm1Jaz/Slc6a6^tm1Jaz
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

cardiovascular system

abnormal myocardial fiber morphology ( J:135159 )

• pronounced myofibrillar fragmentation, mitochondrial swelling, outer mitochondrial membrane disruption, and cellular vacuolization in aged mice

decreased myocardial fiber size ( J:135159 )

• markedly decreased cardiomyocyte size

decreased heart weight ( J:135159 )

dilated heart left ventricle ( J:135159 )

• modest increase in left ventricular end systolic dimensions but no significant change in end diastolic dimensions

• however, no fibrosis is seen

thin ventricular wall ( J:135159 )

abnormal cardiovascular system physiology ( J:135159 )

• mRNA levels of several pathological markers of heart failure are elevated

dilated cardiomyopathy ( J:135159 )

• age-dependent dilated cardiomyopathy

decreased cardiac muscle contractility ( J:135159 )

• decreased fractional shortening and ejection fraction in mice over 9 months of age

muscle

dilated cardiomyopathy ( J:135159 )

• age-dependent dilated cardiomyopathy

decreased cardiac muscle contractility ( J:135159 )

• decreased fractional shortening and ejection fraction in mice over 9 months of age

abnormal muscle fiber morphology ( J:135159 )

abnormal myocardial fiber morphology ( J:135159 )

• pronounced myofibrillar fragmentation, mitochondrial swelling, outer mitochondrial membrane disruption, and cellular vacuolization in aged mice

decreased myocardial fiber size ( J:135159 )

• markedly decreased cardiomyocyte size

decreased skeletal muscle fiber diameter ( J:135159 )

• reduced myofibrillar cross-sectional area of the tibial anterior muscle

• myofiber disruption is more severe in skeletal muscle than in cardiac muscle

decreased skeletal muscle weight ( J:135159 )

• decreased skeletal muscle weight

muscular atrophy ( J:135159 )

• skeletal muscle atrophy

growth/size/body

decreased body weight ( J:135159 )

homeostasis/metabolism

impaired exercise endurance ( J:135159 )

• reduced swimming endurance time

behavior/neurological

impaired exercise endurance ( J:135159 )

• reduced swimming endurance time