All Phenotypes C9orf72<em1Eggn> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

C9orf72^em1Eggn
endonuclease-mediated mutation 1, Kevin Eggan
MGI:6118174

Summary

1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	C9orf72^em1Eggn/C9orf72^em1Eggn	involves: C57BL/6	MGI:6278556

Allelic Composition	C9orf72^em1Eggn/C9orf72^em1Eggn
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C9orf72^em1Eggn mutation (0 available); any C9orf72 mutation (43 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:240357 )

• mice survive to adulthood but survival beyond is decreased

immune system

enlarged spleen ( J:240357 )

enlarged cervical lymph nodes ( J:240357 )

• cervical lymph nodes are enlarged in a small percentage of mice

increased anti-double stranded DNA antibody level ( J:240357 )

• increase in anti-dsDNA antibody activity by P150

hematopoietic system

enlarged spleen ( J:240357 )

decreased hematocrit ( J:240357 )

• reduction in hematocrit in P310 mice

growth/size/body

enlarged spleen ( J:240357 )

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