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Phenotypes Associated with This Genotype
Genotype
MGI:2177634
Allelic
Composition
Tfamtm1Lrsn/Tfamtm1Lrsn
Tg(Ckmm-cre)1Lrsn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfamtm1Lrsn mutation (0 available); any Tfam mutation (4 available)
Tg(Ckmm-cre)1Lrsn mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Heart histology of Tfamtm1Lrsn/Tfamtm1Lrsn Tg(Ckmm-cre)1Lrsn/0 mice

mortality/aging
• die at 2-4 weeks of age

growth/size/body
• cessation of weight gain from P10 onwards

cardiovascular system
• dilated
• ECG changes under isofluorane anesthesia
• decrease in peak aortic blood flow velocity under isofluorane anesthesia
• mutants exhibit a significant increase in apoptosis of cardiomyocytes
• however, no evidence of fibrosis, necrosis, or inflammatory cell infiltration is seen in the hearts

homeostasis/metabolism
• levels of aconitase, a mitochondrial enzyme, and nucleus-encoded respiratory chain complex II are not affected
• total glutathione peroxidase enzyme activity is elevated in hearts
• ECG changes under isofluorane anesthesia
• decrease in peak aortic blood flow velocity under isofluorane anesthesia

behavior/neurological
• decreased spontaneous movement from P10 onwards

muscle
• 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
• mutants exhibit a significant increase in apoptosis of cardiomyocytes
• however, no evidence of fibrosis, necrosis, or inflammatory cell infiltration is seen in the hearts
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory