C57BL/6N-Cers1tm1a(EUCOMM)Hmgu/H
Status | Available to order |
EMMA ID | EM:11251 |
International strain name | C57BL/6N-Cers1tm1a(EUCOMM)Hmgu/H |
Alternative name | HEPD0671_2_G02 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Cers1tm1a(EUCOMM)Hmgu |
Gene/Transgene symbol | Cers1 |
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 | MRC, Medical Research Council |
Provider affiliation | Mary Lyon Centre at MRC Harwell |
Genetic information | This mouse line originates from EUCOMM ES clone HEPD0671_2_G02. 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 | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | heterozygous C57BL/6NTacUSA, heterozygous C57BL/6NTacUSA |
Breeding at archiving centre | C57BL/6NTac |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Progressive myoclonic epilepsy type 8 / Orphanet_424027
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- tremors / MGI
- small cerebellum / MGI
- cerebellum vermis hypoplasia / MGI
- Purkinje cell degeneration / MGI
- decreased Purkinje cell number / MGI
- decreased body weight / MGI
- weight loss / MGI
- decreased body size / MGI
- abnormal anxiety-related response / MGI
- ataxia / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- impaired balance / MGI
- abnormal lipid level / MGI
- seizures / MGI
- premature death / MGI
- abnormal lipid homeostasis / MGI
- decreased brain weight / MGI
- gliosis / MGI
- abnormal motor learning / MGI
- increased neuron apoptosis / MGI
- neuron degeneration / MGI
- astrocytosis / MGI
- abnormal response to novel object / MGI
- abnormal spatial working memory / MGI
- abnormal Purkinje cell dendrite morphology / MGI
- lipofuscinosis / MGI
- reduced cerebellar foliation / MGI
- mortality/aging / MGI
- cerebellum atrophy / MGI
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