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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
C9orf72tm1.1Eggn
targeted mutation 1.1, Kevin Eggan
MGI:5883590
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
C9orf72tm1.1Eggn/C9orf72tm1.1Eggn involves: C57BL/6 * C57BL/6N MGI:6278554
ht2
C9orf72tm1.1Eggn/C9orf72+ involves: C57BL/6 * C57BL/6N MGI:6278555


Genotype
MGI:6278554
hm1
Allelic
Composition
C9orf72tm1.1Eggn/C9orf72tm1.1Eggn
Genetic
Background
involves: C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C9orf72tm1.1Eggn mutation (0 available); any C9orf72 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit increased mortality at later ages

growth/size/body
• mice show decreased weight with age
• mice begin declining on average at 37 +/- 29 days
• a small percentage of mice develop hepatomegaly
• spleens are enlarged at P50 but not at P25

hematopoietic system
• modest microcytic anemia
• modest but significant reduction in red blood cells
• modest but significant reduction in hematocrit
• platelet count is already reduced by P50 and is persistently depressed in older mice
• total white blood cell counts are modestly but significantly elevated
• mice begin to exhibit a persistent and significant increase in neutrophil numbers at 100 days of age
• lymphocytic stromal cell hyperplasia
• CD25+CD4+ T cells are elevated in spleens of P400 mice
• spleens display a disruption of red and white pulp boundaries
• analysis of V(D)J recombination in spleens shows polyclonal populations of B and T cells
• spleens are enlarged at P50 but not at P25
• mice show an increase in splenocytes derived from several lineages, including CD19+B220+ cells, CD3+CD4+ T cells, and CD11b+Ly6G+ neutrophils
• however, no histological changes in cellularity of the bone marrow is seen
• IgG autoantibodies targeting 113 of 124 antigens are elevated
• IgM autoantibodies targeting 117 of 124 antigens are elevated

homeostasis/metabolism
• at 50 days of age, IL-31, IL15/IL-15R, and GM-CSF are elevated in plasma
• 18 of 36 cytokines and chemokines are elevated in the plasma at P100-300, 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
• mice begin to exhibit a persistent and significant increase in neutrophil numbers at 100 days of age
• lymphocytic stromal cell hyperplasia
• CD25+CD4+ T cells are elevated in spleens of P400 mice
• spleens display a disruption of red and white pulp boundaries
• analysis of V(D)J recombination in spleens shows polyclonal populations of B and T cells
• spleens are enlarged at P50 but not at P25
• mice show an increase in splenocytes derived from several lineages, including CD19+B220+ cells, CD3+CD4+ T cells, and CD11b+Ly6G+ neutrophils
• however, no histological changes in cellularity of the bone marrow is seen
• IgG autoantibodies targeting 113 of 124 antigens are elevated
• IgM autoantibodies targeting 117 of 124 antigens are elevated
• at 50 days of age, IL-31, IL15/IL-15R, and GM-CSF are elevated in plasma
• 18 of 36 cytokines and chemokines are elevated in the plasma at P100-300, 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
• mice develop classic features of autoimmunity
• IgM autoantibodies targeting 117 of 124 antigens and IgG autoantibodies targeting 113 of 124 antigens are elevated
• mice exhibit accumulation of anti-dsDNA antibody between P50 and P100
• mice show increased neural inflammation in the cortex
• immune cell infiltrates in the liver

integument

liver/biliary system
• a small percentage of mice develop hepatomegaly
• immune cell infiltrates in the liver

nervous system
N
• number of spinal motor neurons is normal and no gross abnormalities of the motor cortex or other regions of the brain are seen
• mice show increased neural inflammation in the cortex

respiratory system

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




Genotype
MGI:6278555
ht2
Allelic
Composition
C9orf72tm1.1Eggn/C9orf72+
Genetic
Background
involves: C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C9orf72tm1.1Eggn mutation (0 available); any C9orf72 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• mice begin declining on average at 56 +/- 38 days

hematopoietic system
• IgG autoantibodies targeting 2 of 124 antigens (collagen II and Mi-2) are elevated
• IgM autoantibodies targeting 1 of 124 antigens (liver kidney microsomal type 1) are elevated

homeostasis/metabolism
• IL-28 levels are elevated in plasma

immune system
• IgG autoantibodies targeting 2 of 124 antigens (collagen II and Mi-2) are elevated
• IgM autoantibodies targeting 1 of 124 antigens (liver kidney microsomal type 1) are elevated
• IL-28 levels are elevated in plasma
• IgM autoantibodies to liver kidney microsomal type 1 and IgG autoantibodies to collagen II and Mi-2 are elevated

integument

respiratory system





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory