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Phenotypes Associated with This Genotype
Genotype
MGI:6278552
Allelic
Composition
C9orf72tm1Eggn/C9orf72tm1Eggn
Genetic
Background
involves: C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C9orf72tm1Eggn mutation (0 available); any C9orf72 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit an increased risk of death as mice age

growth/size/body
• mice show decreased weight with age
• mice begin declining on average at 76 +/- 51 days

hematopoietic system
• modest microcytic anemia
• modest but significant reduction in red blood cells
• modest but significant reduction in hematocrit
• total white blood cell counts are modestly but significantly elevated
• increase in the number of circulating neutrophils
• lymphocytic stromal cell hyperplasia
• spleen is enlarged in end-stage mice

homeostasis/metabolism
• 18 of 36 cytokines and chemokines are elevated in the plasma, including IL-22, IL-28, IL-23, IL-6, MCP-1, IL-31, IL-5, IL-10, IL-1beta, IL-15/IL-15R, IFN-gamma, IL-3, GM-CSF, IL-17A, IFN-alpha, MIP-1B, LIF, and growth-related oncogene alpha

immune system
• total white blood cell counts are modestly but significantly elevated
• increase in the number of circulating neutrophils
• lymphocytic stromal cell hyperplasia
• spleen is enlarged in end-stage mice
• 18 of 36 cytokines and chemokines are elevated in the plasma, including IL-22, IL-28, IL-23, IL-6, MCP-1, IL-31, IL-5, IL-10, IL-1beta, IL-15/IL-15R, IFN-gamma, IL-3, GM-CSF, IL-17A, IFN-alpha, MIP-1B, LIF, and growth-related oncogene alpha
• a subset of end-stage mice develop enlarged cervical lymph nodes
• both B and T cells are greatly expanded within the lymph nodes
• mice develop classic features of autoimmunity including anti-dsDNA antibodies and increased cytokine and chemokine levels
• wild-type recipients transplanted with homozygous mutant bone marrow are smaller, have larger spleens, some have enlarged cervical lymph nodes, lower platelet count, reduced hematocrit, elevated cytokines, and elevated anti-dsDNA antibody activity indicating autoimmunity development
• homozygous mutant recipients transplanted with wild-type bone marrow show increased weight, increased life span, decreased level of splenomegaly, fewer neutrophils, elevated platelet counts, reduced cytokine levels and reduced anti-dsDNA activity
• mice exhibit an accumulation of anti-dsDNA antibody which is sustained in plasma in mice greater than 300 days of age

integument

liver/biliary system
• a small percentage of mice develop hepatomegaly

cardiovascular system

respiratory system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autoimmune hypersensitivity disease DOID:417 OMIM:109100
OMIM:607836
OMIM:613551
J:240357


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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last database update
01/14/2020
MGI 6.14
The Jackson Laboratory