IMPC phenotypes (gene matching)
C57BL/6N-Atm1Brd Dnm1ltm1a(KOMP)Wtsi/Ics
| Status | Available to order |
| EMMA ID | EM:08240 |
| Citation information | RRID:IMSR_EM:08240 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6N-Atm1Brd Dnm1ltm1a(KOMP)Wtsi/Ics |
| Alternative name | EPD0332_5_A09 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Dnm1ltm1a(KOMP)Wtsi |
| Gene/Transgene symbol | Dnm1l |
| Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
| Provider | ICS, Institut Clinique de la Souris |
| Provider affiliation | ICS, Institut Clinique de la Souris |
| Genetic information | This 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 information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
| Animals used for archiving | heterozygous C57BL/6NTac males |
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
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