C57BL/6N-Atm1Brd Dnm1ltm1a(KOMP)Wtsi/Ics

Status

Available to order

EMMA IDEM:08240
International strain nameC57BL/6N-Atm1Brd Dnm1ltm1a(KOMP)Wtsi/Ics
Alternative nameEPD0332_5_A09
Strain typeTargeted Mutant Strains
Allele/Transgene symbolDnm1ltm1a(KOMP)Wtsi
Gene/Transgene symbolDnm1l
DisclaimerPlease note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
  1. We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted.
  2. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure.
  3. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA.
  4. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider ICS, Institut Clinique de la Souris
Provider affiliationICS, Institut Clinique de la Souris
Genetic informationThis mouse line originates from KOMP ES clone EPD0332_5_A09. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
ReferencesNone available

Information from EMMA

Archiving centreICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France
Animals used for archivingheterozygous C57BL/6N Tac

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect / Orphanet_330050
    • Autosomal dominant optic atrophy, classic form / Orphanet_98673
IMPC phenotypes (gene matching)
  • abnormal cornea morphology / IMPC
  • persistence of hyaloid vascular system / IMPC
  • abnormal coat/ hair morphology / IMPC
  • preweaning lethality, complete penetrance / IMPC
  • abnormal optic disk morphology / IMPC
  • abnormal vitreous body morphology / IMPC
MGI phenotypes (gene matching)
  • abnormal heart morphology / MGI
  • abnormal heart development / MGI
  • abnormal cell morphology / MGI
  • delayed hepatic development / MGI
  • increased body size / MGI
  • abnormal pilomotor reflex / MGI
  • abnormal cardiovascular system physiology / MGI
  • internal hemorrhage / MGI
  • decreased embryo size / MGI
  • absent trophoblast giant cells / MGI
  • skin edema / MGI
  • thin myocardium / MGI
  • dystrophic cardiac calcinosis / MGI
  • increased circulating alanine transaminase level / MGI
  • abnormal cell adhesion / MGI
  • increased left ventricle diastolic pressure / MGI
  • decreased left ventricle systolic pressure / MGI
  • embryonic growth retardation / MGI
  • caudal body truncation / MGI
  • abnormal cardiac muscle relaxation / MGI
  • abnormal myocardial fiber physiology / MGI
  • enlarged myocardial fiber / MGI
  • decreased mean systemic arterial blood pressure / MGI
  • dilated heart / MGI
  • abnormal metabolism / MGI
  • ascites / MGI
  • increased circulating aspartate transaminase level / MGI
  • tachypnea / MGI
  • decreased ventricle muscle contractility / MGI
  • cardiac interstitial fibrosis / MGI
  • abnormal cell physiology / MGI
  • abnormal mitochondrion morphology / MGI
  • decreased apoptosis / MGI
  • congestive heart failure / MGI
  • abnormal heart ventricle pressure / MGI
  • visceral vascular congestion / MGI
  • pulmonary vascular congestion / MGI
  • liver vascular congestion / MGI
  • pleural effusion / MGI
  • abnormal cellular respiration / MGI
  • abnormal mitochondrial ATP synthesis coupled electron transport / MGI
  • prenatal lethality, complete penetrance / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
  • embryonic lethality during organogenesis, incomplete penetrance / MGI
  • increased mitochondria size / MGI
  • decreased fibroblast proliferation / MGI
  • absent fibroblast proliferation / MGI
  • decreased embryonic neuroepithelium thickness / MGI
  • abnormal peroxisome morphology / MGI
  • increased brain apoptosis / MGI

Information on how we integrate external resources can be found here

Order

Availabilities

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

  • Frozen sperm. 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).

More details on pricing and delivery times

Practical information

Genotyping protocol

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

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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