Phenotypes associated with this allele

• Allele Symbol: C9orf72^em1Eggn
• Allele Name: endonuclease-mediated mutation 1, Kevin Eggan
• Allele ID: MGI:6118174
• Summary: 1 genotype

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

Genotype
MGI:6278556

hm1

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

• ♀: 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