- 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
B6J.B6N-C9orf72em1.1(GA400)Aisa/H
| Status | Only small colony available |
| EMMA ID | EM:14600 |
| Citation information | RRID:IMSR_EM:14600 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 | B6J.B6N-C9orf72em1.1(GA400)Aisa/H |
| Alternative name | C57BL/6J-C9orf72tm1.1(GA400)Aisa |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | C9orf72em1.1(GA400)Aisa |
| Gene/Transgene symbol | C9orf72 |
Information from provider
| Provider | Adrian Isaacs |
| Provider affiliation | UCL |
| Genetic information | Knock-in of 400 codon-optimised GA repeats directly downstream of the mouse C9orf72 ATG start codon. CRISPR technology details: the Cas9 was obtained from IDT and it has not been integrated in the mouse genome. |
| Phenotypic information | Homozygous:We have not generated homozygous mice.Heterozygous:No clinical signs via observation. No survival or body weight deficit. |
| Breeding history | ES cells used were C57BL/6N, followed by 5 generations of backcrossing to C57BL/6J. |
| 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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