C9orf72 | C9orf72, member of C9orf72-SMCR8 complex
Physiological systems
21 / 24 physiological systems tested
8 Significantly impacted by the knock-out
Homeostasis/metabolism Reproductive system Immune system Endocrine/exocrine gland Adipose tissue Growth/size/body region Hematopoietic system Skeleton
13 No significant impact
3 Not tested
Data collections
Gene metrics:16Significant phenotypes
7Associated diseases
Expression examined in:73Adult tissues
0Embryo tissues
| abnormal spleen morphology | 2 supporting datasets | C9orf72tm1.1(KOMP)Mbp | homozygote | Early adult | N/A * | ||
| enlarged spleen | 2 supporting datasets | C9orf72tm1.1(KOMP)Mbp | homozygote | Early adult | N/A * | ||
| increased circulating alkaline phosphatase level | 1 supporting dataset | C9orf72tm1.1(KOMP)Mbp | homozygote | Early adult | 6.03x10-17 | ||
| decreased total body fat amount | 2 supporting datasets | C9orf72tm1.1(KOMP)Mbp | homozygote | Early adult | 2.39x10-7 | ||
| increased spleen weight | 1 supporting dataset | C9orf72tm1.1(KOMP)Mbp | homozygote | Early adult | 1.43x10-119 | ||
| increased lean body mass | 1 supporting dataset | C9orf72tm1.1(KOMP)Mbp | homozygote | Early adult | 4.06x10-6 | ||
| small testis | 1 supporting dataset | C9orf72tm1.1(KOMP)Mbp | homozygote | Early adult | N/A * | ||
| enlarged lymph nodes | 1 supporting dataset | C9orf72tm1.1(KOMP)Mbp | homozygote | Early adult | N/A * | ||
| abnormal vertebral arch morphology | 1 supporting dataset | C9orf72tm1.1(KOMP)Mbp | homozygote | Early adult | 2.67x10-5 |
| | | | | | | | | | |
| adrenal gland | heterozygote | Section images Wholemount images | 100% (4/4) | 0.7% (4/570) |
| aorta | heterozygote | Section images Wholemount images | 75% (3/4) | 0.19% (1/533) |
| blood | heterozygote | n/a | 0% (0/1) | 0% (0/17) |
| bone marrow | heterozygote | n/a | 0% (0/2) | 0% (0/22) |
| brain | heterozygote | Wholemount images | 75% (3/4) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | n/a | 0.41% (2/490) |
| brown adipose tissue | heterozygote | Section images | 25% (1/4) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | n/a | 0.22% (1/454) |
| cecum | heterozygote | Section images | 100% (4/4) | 7.75% (22/284) |
| cerebellum | heterozygote | Section images Wholemount images | 75% (3/4) | 0.56% (3/532) |
Human diseases caused by C9orf72 mutations
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
This gene doesn't have any significant Histopathology hits. Click here to see the raw data
External links
No external links available for C9orf72.
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
| C9orf72tm1(KOMP)Mbp | Reporter-tagged deletion allele (with selection cassette) | | targeting vector ES Cell mouse |
| C9orf72tm1.1(KOMP)Mbp | Reporter-tagged deletion allele (post Cre, with no selection cassette) | | mouse |
| C9orf72tm406904(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |