B6.129S2/Sv-Destm1Cba/Orl

Status

Available to order

EMMA IDEM:00621
International strain nameB6.129S2/Sv-Destm1Cba/Orl
Alternative nameDesKo
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolDestm1Cba
Gene/Transgene symbolDes

Information from provider

ProviderZhenlin LI
Provider affiliationUniversité Pierre et Marie Curie
Genetic informationThe 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 informationDesmin 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 historyBackcrossed more than 10 times to C57BL/6.
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

Information from EMMA

Archiving centreInstitut de Transgenose, INTRAGENE, Orléans, France

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • 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
MGI phenotypes (gene matching)
  • abnormal heart morphology / MGI
  • enlarged heart / MGI
  • abnormal myocardial fiber morphology / MGI
  • abnormal interventricular septum morphology / MGI
  • progressive muscle weakness / MGI
  • muscle degeneration / MGI
  • myopathy / MGI
  • dystrophic muscle / MGI
  • abnormal skeletal muscle morphology / MGI
  • thin diaphragm muscle / MGI
  • abnormal smooth muscle morphology / MGI
  • abnormal cardiovascular system physiology / MGI
  • cardiac hypertrophy / MGI
  • irregular heartbeat / MGI
  • hemorrhage / MGI
  • premature death / MGI
  • disorganized myocardium / MGI
  • abnormal diaphragm morphology / MGI
  • thin myocardium / MGI
  • dilated heart left ventricle / MGI
  • dilated heart right ventricle / MGI
  • dilated cardiomyopathy / MGI
  • increased heart weight / MGI
  • dystrophic cardiac calcinosis / MGI
  • impaired skeletal muscle contractility / MGI
  • thick ventricular wall / MGI
  • abnormal epicardium morphology / MGI
  • abnormal soleus morphology / MGI
  • abnormal skeletal muscle fiber morphology / MGI
  • abnormal impulse conducting system conduction / MGI
  • cardiac fibrosis / MGI
  • abnormal aorta elastic fiber morphology / MGI
  • increased left ventricle diastolic pressure / MGI
  • decreased left ventricle developed pressure / MGI
  • increased left ventricle weight / MGI
  • abnormal heart right ventricle morphology / MGI
  • abnormal ventricle papillary muscle morphology / MGI
  • abnormal P wave / MGI
  • abnormal cardiac muscle relaxation / MGI
  • abnormal Z line morphology / MGI
  • abnormal myocardial fiber physiology / MGI
  • myocardial fiber degeneration / MGI
  • decreased myocardial fiber number / MGI
  • decreased cardiac muscle contractility / MGI
  • lethargy / MGI
  • abnormal myocardium layer morphology / MGI
  • cardiomyopathy / MGI
  • muscle phenotype / MGI
  • abnormal vascular smooth muscle morphology / MGI
  • decreased ventricle muscle contractility / MGI
  • cardiac interstitial fibrosis / MGI
  • abnormal mitochondrion morphology / MGI
  • myocardial necrosis / MGI
  • congestive heart failure / MGI
  • abnormal intercalated disk morphology / MGI
  • atrial fibrillation / MGI
  • ventricular tachycardia / MGI
  • increased skeletal muscle fiber size / MGI
  • increased variability of skeletal muscle fiber size / MGI
  • centrally nucleated skeletal muscle fibers / MGI
  • decreased skeletal muscle fiber number / MGI
  • skeletal muscle fiber degeneration / MGI
  • skeletal muscle fiber atrophy / MGI
  • skeletal muscle fiber necrosis / MGI
  • skeletal muscle degeneration / MGI
  • skeletal muscle endomysial fibrosis / MGI
  • ventricular premature beat / MGI
  • decreased grip strength / MGI
  • abnormal heart electrocardiography waveform feature / MGI
  • atrioventricular block / MGI
  • sinoatrial block / MGI
  • prolonged HV interval / MGI
  • increased mitochondria size / MGI
  • decreased cardiac stroke volume / MGI
  • impaired exercise endurance / MGI

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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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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