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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		C9orf72
C9orf72, member of C9orf72-SMCR8 complex
MGI:1920455
52 phenotypes from 6 alleles in 4 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
C9orf72em1Eggn/C9orf72em1Eggn
involves: C57BL/6 		decreased hematocrit J:240357
enlarged cervical lymph nodes J:240357
enlarged spleen J:240357
increased anti-double stranded DNA antibody level J:240357
premature death J:240357
C9orf72em5Lutzy/C9orf72em5Lutzy
C57BL/6-C9orf72em5Lutzy 		abnormal macrophage physiology J:101977
abnormal microglial cell physiology J:101977
abnormal spinal cord grey matter morphology J:101977
abnormal spinal cord white matter morphology J:101977
normal behavior/neurological phenotype J:101977
enlarged lymph nodes J:101977
enlarged spleen J:101977
lysosomal protein accumulation J:101977
normal nervous system phenotype J:101977
C9orf72tm1.1(KOMP)Mbp/C9orf72tm1.1(KOMP)Mbp
C57BL/6N-C9orf72tm1.1(KOMP)Mbp/Ucd 		abnormal spleen morphology J:211773
abnormal vertebral arch morphology J:211773
decreased total body fat amount J:211773
enlarged lymph nodes J:211773
enlarged spleen J:211773
increased circulating alkaline phosphatase level J:211773
increased lean body mass J:211773
increased spleen weight J:211773
small testis J:211773
C9orf72tm1.1Eggn/C9orf72+
involves: C57BL/6 * C57BL/6N 		abnormal circulating interleukin level J:240357
cachexia J:240357
decreased circulating interleukin-2 level J:240357
dermatitis J:240357
increased autoantibody level J:240357
increased IgG level J:240357
increased IgM level J:240357
respiratory failure J:240357
C9orf72tm1.1Eggn/C9orf72tm1.1Eggn
involves: C57BL/6 * C57BL/6N 		abnormal circulating cytokine level J:240357
abnormal lymphocyte morphology J:240357
abnormal spleen morphology J:240357
brain inflammation J:240357
cachexia J:240357
decreased erythrocyte cell number J:240357
decreased hematocrit J:240357
decreased mean corpuscular volume J:240357
dermatitis J:240357
enlarged liver J:240357
enlarged spleen J:240357
increased anti-double stranded DNA antibody level J:240357
increased autoantibody level J:240357
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number J:240357
increased IgG level J:240357
increased IgM level J:240357
increased leukocyte cell number J:240357
increased neutrophil cell number J:240357
increased splenocyte number J:240357
increased susceptibility to autoimmune disorder J:240357
liver inflammation J:240357
microcytic anemia J:240357
normal nervous system phenotype J:240357
premature death J:240357
respiratory failure J:240357
thrombocytopenia J:240357
C9orf72tm1Eggn/C9orf72+
involves: C57BL/6 * C57BL/6N 		ataxia J:240357
cachexia J:240357
dermatitis J:240357
enlarged liver J:240357
respiratory failure J:240357
C9orf72tm1Eggn/C9orf72tm1Eggn
involves: C57BL/6 * C57BL/6N 		abnormal circulating cytokine level J:240357
abnormal lymphocyte morphology J:240357
cachexia J:240357
decreased erythrocyte cell number J:240357
decreased hematocrit J:240357
decreased mean corpuscular volume J:240357
dermatitis J:240357
enlarged cervical lymph nodes J:240357
enlarged liver J:240357
enlarged spleen J:240357
increased anti-double stranded DNA antibody level J:240357
increased leukocyte cell number J:240357
increased neutrophil cell number J:240357
increased susceptibility to autoimmune disorder J:240357
internal hemorrhage J:240357
microcytic anemia J:240357
premature death J:240357
respiratory failure J:240357
thrombocytopenia J:240357
C9orf72tm1Lagi/C9orf72tm1Lagi
involves: C57BL/6 * C57BL/6N 		abnormal celiac lymph node morphology J:232242
abnormal cervical lymph node morphology J:232242
abnormal lymph node cell ratio J:232242
abnormal social investigation J:232242
decreased body weight J:232242
decreased hematocrit J:232242
decreased hemoglobin content J:232242
decreased lymphocyte cell number J:232242
enlarged cervical lymph nodes J:232242
enlarged spleen J:232242
impaired coordination J:232242
increased neutrophil cell number J:232242
premature death J:232242
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory