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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Acad9tm1c(KOMP)Wtsi
targeted mutation 1c, Wellcome Trust Sanger Institute
MGI:7327433
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Acad9tm1c(KOMP)Wtsi/Acad9tm1c(KOMP)Wtsi
Tg(ACTA1-cre)79Jme/0
involves: C57BL/6J * C57BL/6N * FVB/N * SJL MGI:7378413
cn2
Acad9tm1c(KOMP)Wtsi/Acad9tm1c(KOMP)Wtsi
Tg(Myh6-cre)2182Mds/0
involves: C57BL/6N * FVB/N MGI:7378415


Genotype
MGI:7378413
cn1
Allelic
Composition
Acad9tm1c(KOMP)Wtsi/Acad9tm1c(KOMP)Wtsi
Tg(ACTA1-cre)79Jme/0
Genetic
Background
involves: C57BL/6J * C57BL/6N * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acad9tm1c(KOMP)Wtsi mutation (0 available); any Acad9 mutation (40 available)
Tg(ACTA1-cre)79Jme mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mice show some disruption of normal muscle architecture with presence of abnormal myofibril bundles and centralized nuclei, indicative of persistent muscle damage
• no mice successfully complete the hanging wire test, with 50% of mice falling just after 60 seconds and the longest hanging time is just over 100 seconds compared to wild-type mice that can hang for 3 minutes and mice are inactive for 15-30 min after falling from the hanging wire

behavior/neurological
• no mice successfully complete the hanging wire test, with 50% of mice falling just after 60 seconds and the longest hanging time is just over 100 seconds compared to wild-type mice that can hang for 3 minutes indicating impaired exercise tolerance
• mice are inactive for 15-30 min after falling from the hanging wire unlike wild-type mice which return to normal activity immediately after the test

homeostasis/metabolism
• no mice successfully complete the hanging wire test, with 50% of mice falling just after 60 seconds and the longest hanging time is just over 100 seconds compared to wild-type mice that can hang for 3 minutes indicating impaired exercise tolerance
• mice are inactive for 15-30 min after falling from the hanging wire unlike wild-type mice which return to normal activity immediately after the test
• mice exhibit higher resting L-lactic acid levels, more than double that of wild-type levels, and have over double the wild-type levels at the time of fall in the hanging wire test
• however, glucose levels are normal before and after the hanging wire test

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nuclear type mitochondrial complex I deficiency 20 DOID:0112072 OMIM:611126
J:326969




Genotype
MGI:7378415
cn2
Allelic
Composition
Acad9tm1c(KOMP)Wtsi/Acad9tm1c(KOMP)Wtsi
Tg(Myh6-cre)2182Mds/0
Genetic
Background
involves: C57BL/6N * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acad9tm1c(KOMP)Wtsi mutation (0 available); any Acad9 mutation (40 available)
Tg(Myh6-cre)2182Mds mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice begin to die shortly after P14, with the earliest death at P13 and die by P17

cardiovascular system
• the respiratory chain supercomplexes and isolated complex I are absent in hearts
• ejection fraction is reduced by as much as 27-fold and is already reduced at P3
• mice exhibit dramatic cardiomyopathy with thickening of the atrial and ventricular walls and severe enlargement of all chambers
• cardiomyopathy is already seen at P3

cellular
• mitochondria do not respond to substrates that drive complex I (malate, pyruvate, and glutamate) but have a normal response to the complex II substrate succinate
• mitochondria also show no response to injection of rotenone which leads to loss of respiration in wild-type mitochondria

muscle
• ejection fraction is reduced by as much as 27-fold and is already reduced at P3
• mice exhibit dramatic cardiomyopathy with thickening of the atrial and ventricular walls and severe enlargement of all chambers
• cardiomyopathy is already seen at P3

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nuclear type mitochondrial complex I deficiency 20 DOID:0112072 OMIM:611126
J:326969





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory