Mouse Genome Informatics
hm1
    Ndufs6Gt(AR0138)Wtsi/Ndufs6Gt(AR0138)Wtsi
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• prone to rapid onset of weight loss and sudden death starting at 4 and 8 months of age in males and females, respectively
• long term survival of males is about half that of females

growth/size/body
• prone to rapid onset of weight loss starting at 4 and 8 months of age in males and females, respectively

cardiovascular system
• evident by 30 days of age and more pronounced in males
• enlargement is more severe in mice with weight loss
• near doubling of heart weight and heart to body weight ratio
• increase in chamber dimensions and wall thickness
• left ventricular end-systolic and end-diastolic diameters and posterior wall thickness are increased
• increase in free wall and septal weights
• increase in chamber dimensions and wall thickness
• increase in free wall and septal weights
• scattered areas of fibrosis
• aortic output, coronary flow and left ventricular stroke volume are reduced
• hearts are situated at the lower end of a highly linear stroke volume?external work relationship
• cardiac failure in mice with weight loss
• decrease in fractional shortening
• left ventricular relaxation is reduced
• at baseline preload peak systolic pressure is reduced
• at baseline preload end diastolic pressure is increased

cellular
• in the ventricular myocardium mitochondria appear abnormal with the central area frequently denser than the periphery due to narrowing of both the matrix and intercristal spaces
• decrease in mitochondrial area in the ventricular myocardium
• mitochondrial complex I activity is about 10% that in wild-type mitochondria

reproductive system
• females produce smaller litters and have reduced pup survival rates

homeostasis/metabolism
• general increase in hydroxyacylcarnitines with chain length C6 to C18 in the heart

muscle
• decrease in fractional shortening
• left ventricular relaxation is reduced

Mouse Models of Human Disease
OMIM IDRef(s)
Mitochondrial Complex I Deficiency 252010 J:183619