Phenotypes associated with this allele

• Allele Symbol: C9orf72^em5Lutzy
• Allele Name: endonuclease-mediated mutation 5, Cathy Lutz
• Allele ID: MGI:5751186
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	C9orf72^em5Lutzy/C9orf72^em5Lutzy	C57BL/6-C9orf72^em5Lutzy	MGI:5751210

Genotype
MGI:5751210

hm1

• Allelic Composition: C9orf72^em5Lutzy/C9orf72^em5Lutzy
• Genetic Background: C57BL/6-C9orf72^em5Lutzy

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

behavior/neurological

behavior/neurological phenotype ( J:101977 )

N • mice exhibit no abnormalities in sensorimotor coordination, limb strength, and muscle electrophysiology

cellular

lysosomal protein accumulation ( J:101977 )

hematopoietic system

enlarged spleen ( J:101977 )

abnormal macrophage physiology ( J:101977 )

• altered immune responses in macrophages

abnormal microglial cell physiology ( J:101977 )

• altered immune responses in microglia

immune system

enlarged spleen ( J:101977 )

abnormal macrophage physiology ( J:101977 )

• altered immune responses in macrophages

abnormal microglial cell physiology ( J:101977 )

• altered immune responses in microglia

enlarged lymph nodes ( J:101977 )

• with accumulation of engorged macrophage-like cells

nervous system

nervous system phenotype ( J:101977 )

N • mice exhibit no evidence of motor neuron disease or histological neurodegeneration through advanced age (17 months)

N • mice exhibit no abnormalities in femoral motor and sensory axon counts

abnormal microglial cell physiology ( J:101977 )

• altered immune responses in microglia

abnormal spinal cord grey matter morphology ( J:101977 )

• chromatolytic structures are observed in gray and white matter of the spinal cord

abnormal spinal cord white matter morphology ( J:101977 )

• chromatolytic structures are observed in gray and white matter of the spinal cord

growth/size/body

enlarged spleen ( J:101977 )