- enlarged heart / MGI
- increased heart weight / MGI
- dystrophic cardiac calcinosis / MGI
- thick ventricular wall / MGI
- cardiac fibrosis / MGI
- increased left ventricle diastolic pressure / MGI
- decreased left ventricle developed pressure / MGI
- increased left ventricle weight / MGI
- abnormal myocardial fiber physiology / MGI
- decreased cardiac muscle contractility / MGI
- cardiomyopathy / MGI
- abnormal myocardial fiber morphology / MGI
- thin diaphragm muscle / MGI
- hemorrhage / MGI
- abnormal diaphragm morphology / MGI
- abnormal skeletal muscle fiber morphology / MGI
- abnormal aorta elastic fiber morphology / MGI
- abnormal myocardium layer morphology / MGI
- abnormal vascular smooth muscle morphology / MGI
- myocardial necrosis / MGI
- increased skeletal muscle fiber size / MGI
- centrally nucleated skeletal muscle fibers / MGI
- decreased skeletal muscle fiber number / MGI
- skeletal muscle fiber atrophy / MGI
- skeletal muscle fiber necrosis / MGI
B6.129S2/Sv-Destm1Cba/Orl
Status | Available to order |
EMMA ID | EM:00621 |
International strain name | B6.129S2/Sv-Destm1Cba/Orl |
Alternative name | DesKo |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Destm1Cba, |
Gene/Transgene symbol | Des |
Information from provider
Provider | Zhenlin LI |
Provider affiliation | Université Pierre et Marie Curie |
Genetic information | The targeting construct comprises (5' to 3'): a 4.5 kb EcoRI-Sal I fragment of the desmin gene, a nls-lacZ cassette inserted in frame in the Sal I site of desmin exon 1 (pos. +608) followed by a pgk-neo cassette, a 2.5 kb Sal I-Sal I fragment containing the remaining region of exon 1 to the middle region of exon 6. The vector also contains a 3'-pgk/tk cassette, out of the region of homology with the desmin gene. ES cell clones were selected by ganciclovir/G418 double selection. |
Phenotypic information | Desmin is a member of the intermediate filament family which forms a cytoskeletal lattice in all kind of muscle cells. In striated muscle, desmin links myobrils in parallel and in series between themselves and to the membrane cytoskeleton by interconnecting Z disks together and to the sarcolemma. Desmin is enriched at the myotendinous region in skeletal muscle and at the intercalated disks in cardiac myocytes. In smooth muscles, desmin filament link to dense bodies and dense plaques. Homozygous Des -/- mice are born and fertile with a reduced life expectancy (around 6 months). They develop a severe dilated cardiomyopathy evidenced by visible calcified lesions, as well as a skeletal myopathy and vascular and visceral smooth muscle defects. Desmin plays a crucial in the cellular transmission of active and passive force in striated and smooth muscles. Desmin was also found to play a role in the dynamic of mitochondria positioning in the heart and thereof in mitochondrial metabolism. The homozygous males are fertile but the homozygous females can be normally pregnant one time only, because desmin is involved in the smooth muscle of uterus. The heterozygous females do not have this problem. |
Breeding history | Backcrossed more than 10 times to C57BL/6. |
References |
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Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Familial isolated dilated cardiomyopathy / Orphanet_154
- Neurogenic scapuloperoneal syndrome, Kaeser type / Orphanet_85146
- Desminopathy / Orphanet_98909
MGI phenotypes (allele matching)
Literature references
- Cardiovascular lesions and skeletal myopathy in mice lacking desmin.;Li Z, Colucci-Guyon E, Pinçon-Raymond M, Mericskay M, Pournin S, Paulin D, Babinet C, ;1996;Developmental biology;175;362-6; 8626040
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