About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
C9orf72tm1Eggn
targeted mutation 1, Kevin Eggan
MGI:5883587
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
C9orf72tm1Eggn/C9orf72tm1Eggn involves: C57BL/6 * C57BL/6N MGI:6278552
ht2
C9orf72tm1Eggn/C9orf72+ involves: C57BL/6 * C57BL/6N MGI:6278553


Genotype
MGI:6278552
hm1
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 (36 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
• a small percentage of mice develop hepatomegaly
• spleen is enlarged in end-stage mice

hematopoietic system
• spleen is enlarged in end-stage mice
• 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

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
• spleen is enlarged in end-stage mice
• total white blood cell counts are modestly but significantly elevated
• increase in the number of circulating neutrophils
• lymphocytic stromal cell hyperplasia
• 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 disease DOID:417 OMIM:109100
J:240357




Genotype
MGI:6278553
ht2
Allelic
Composition
C9orf72tm1Eggn/C9orf72+
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 (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• severe ataxia

growth/size/body
• mice begin declining on average at 118 +/-67 days

immune system

integument

liver/biliary system

respiratory system





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory