About   Help   FAQ
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
• cardiomyopathy is already seen at P3
• mice exhibit dramatic cardiomyopathy with thickening of the atrial and ventricular walls and severe enlargement of all chambers

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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory