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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		C9orf72em5Lutzy
endonuclease-mediated mutation 5, Cathy Lutz
MGI:5751186
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		C9orf72em5Lutzy/C9orf72em5Lutzy C57BL/6-C9orf72em5Lutzy MGI:5751210


Genotype
MGI:5751210
hm1
Allelic
Composition		 C9orf72em5Lutzy/C9orf72em5Lutzy
Genetic
Background		 C57BL/6-C9orf72em5Lutzy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C9orf72em5Lutzy mutation (1 available); any C9orf72 mutation (43 available)
♀ 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
abnormal microglial cell physiology ( J:101977 )
• altered immune responses in microglia

hematopoietic system
abnormal macrophage physiology ( J:101977 )
• altered immune responses in macrophages
abnormal microglial cell physiology ( J:101977 )
• altered immune responses in microglia

immune system
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)
• 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 )




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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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Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory