Phenotypes associated with this allele

• Allele Symbol: Slc25a4^tm2Dwa
• Allele Name: targeted mutation 2, Douglas C Wallace
• Allele ID: MGI:3036342
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc25a4^tm2Dwa/Slc25a4^tm2Dwa	involves: 129S4/SvJae * C57BL/6J	MGI:3036354
cn2	Slc25a4^tm2Dwa/Slc25a4^tm2Dwa Slc25a5^tm1Dwa/Y Speer6-ps1^Tg(Alb-cre)21Mgn/?	involves: 129S4/SvJae	MGI:3036352

Genotype
MGI:3036354

hm1

• Allelic Composition: Slc25a4^tm2Dwa/Slc25a4^tm2Dwa
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

cardiovascular system

cardiac hypertrophy ( J:41256 )

• hearts grossly enlarged by 4-6 months

• increased numbers of normal sized mitochondria

cellular

abnormal aerobic respiration ( J:41256 )

• ADP stimulation of cell respiration is inhibited

homeostasis/metabolism

abnormal blood homeostasis ( J:41256 )

• increased blood levels of succinic acid (48X) and citric acid (1.7X)

increased circulating alanine level ( J:41256 )

• elevated levels of alanine in blood

increased circulating lactate level ( J:41256 )

• 4X increase in resting serum lactate levels

abnormal exercise endurance ( J:41256 )

• reduced tolerance for exercise and a lower anabolic threshold

• only about half the exercise capacity on a treadmill test

• increased respiratory exchange ratio during exercise

muscle

myopathy ( J:41256 )

• skeletal muscle with ragged-red fibers typical of mitochondrial myopathy

• mitochondria are large and excessively abundant

growth/size/body

cardiac hypertrophy ( J:41256 )

• hearts grossly enlarged by 4-6 months

• increased numbers of normal sized mitochondria

Genotype
MGI:3036352

cn2

• Allelic Composition: Slc25a4^tm2Dwa/Slc25a4^tm2Dwa; Slc25a5^tm1Dwa/Y; Speer6-ps1^{Tg(Alb-cre)21Mgn}/?
• Genetic Background: involves: 129S4/SvJae

cellular

abnormal aerobic respiration ( J:88165 )

♂ • increased cellular respiration rates