- epithelial hyperplasia / IMPC
- hyperplasia / IMPC
- decreased total body fat amount / IMPC
- enlarged spleen / IMPC
- increased circulating alkaline phosphatase level / IMPC
- chronic inflammation / IMPC
- abnormal spleen morphology / IMPC
- lymphoid hyperplasia / IMPC
- abnormal vertebral arch morphology / IMPC
- increased lean body mass / IMPC
- increased spleen weight / IMPC
- myeloid hyperplasia / IMPC
- inflammation / IMPC
- small testis / IMPC
- enlarged lymph nodes / IMPC
- acute inflammation / IMPC
C57BL/6N-C9orf72em2.1Tjcu/H
| Status | Available to order |
| EMMA ID | EM:15902 |
| Citation information | RRID:IMSR_EM:15902 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-C9orf72em2.1Tjcu/H |
| Alternative name | C9orf72 |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | C9orf72em2.1Tjcu |
| Gene/Transgene symbol | C9orf72 |
Information from provider
| Provider | Thomas Cunningham |
| Provider affiliation | Institute of Prion Diseases, University College London |
| Genetic information | This strain carries a 'partially' humanized allele of C9orf72. The C9orf72 gene is humanized from the start of intron 1 through to the ATG start codon in exon 2. All mouse promotor sequences and UTRs have been retained. The allele also carries a hexanucleotide pathogenic repeat expansion within the humanized intron 1. The humanized allele contains a PiggyBac ITR-flanked selection cassette. |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Amyotrophic lateral sclerosis / Orphanet_803
- Frontotemporal dementia with motor neuron disease / Orphanet_275872
- Huntington disease-like syndrome due to C9ORF72 expansions / Orphanet_401901
IMPC phenotypes (gene matching)
Information on how we integrate external resources can be found here
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