Phenotypes Associated with This Genotype

Genotype
MGI:2177634

• Allelic Composition: Tfam^tm1Lrsn/Tfam^tm1Lrsn; Tg(Ckmm-cre)1Lrsn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

Heart histology of Tfam^tm1Lrsn/Tfam^tm1Lrsn Tg(Ckmm-cre)1Lrsn/0 mice

mortality/aging

postnatal lethality, complete penetrance ( J:51964 )

• die at 2-4 weeks of age

growth/size/body

enlarged heart ( J:51964 )

• dilated

increased heart weight ( J:51964 )

postnatal growth retardation ( J:51964 )

• cessation of weight gain from P10 onwards

cardiovascular system

enlarged heart ( J:51964 )

• dilated

increased heart weight ( J:51964 )

dilated heart left ventricle ( J:51964 )

abnormal cardiovascular system physiology ( J:51964 )

• ECG changes under isofluorane anesthesia

dilated cardiomyopathy ( J:51964 )

abnormal blood flow velocity ( J:51964 )

• decrease in peak aortic blood flow velocity under isofluorane anesthesia

homeostasis/metabolism

increased superoxide dismutase level ( J:125471 )

• increased levels of Sod2 transcripts in hearts

abnormal enzyme/coenzyme activity ( J:125471 )

• tendency toward increased total superoxide dismutase enzyme activity in hearts

• activities of aconitase, a mitochondrial enzyme highly sensitive to ROS inactivation, and of the nucleus-encoded respiratory chain complex II are not affected

increased glutathione peroxidase activity ( J:125471 )

• total glutathione peroxidase enzyme activity is elevated in hearts

increased physiological sensitivity to xenobiotic ( J:51964 )

• ECG changes under isofluorane anesthesia

• decrease in peak aortic blood flow velocity under isofluorane anesthesia

behavior/neurological

bradykinesia ( J:51964 )

• decreased spontaneous movement from P10 onwards

muscle

dilated cardiomyopathy ( J:51964 )

increased cardiomyocyte apoptosis ( J:125471 )

• mutants exhibit a significant increase in apoptosis of cardiomyocytes

• however, no evidence of fibrosis, necrosis, or inflammatory cell infiltration is seen in the hearts

cellular

increased cardiomyocyte apoptosis ( J:125471 )

• mutants exhibit a significant increase in apoptosis of cardiomyocytes

• however, no evidence of fibrosis, necrosis, or inflammatory cell infiltration is seen in the hearts

abnormal respiratory electron transport chain ( J:125471 )

• mosaic respiratory chain deficiency in the myocardium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kearns-Sayre syndrome		DOID:12934	OMIM:530000	J:51964