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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(C9orf72_i3)112Lutzy
transgene insertion 112, Cathy Lutz
MGI:5618284
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
tg1
Tg(C9orf72_i3)112Lutzy/0 C57BL/6J-Tg(C9orf72_i3)112Lutzy/J MGI:6274932


Genotype
MGI:6274932
tg1
Allelic
Composition
Tg(C9orf72_i3)112Lutzy/0
Genetic
Background
C57BL/6J-Tg(C9orf72_i3)112Lutzy/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(C9orf72_i3)112Lutzy mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice develop sense and antisense RNA foci throughout the nervous system and production of repeat-associated non-ATG (RAN) translated dipeptides
• however, mice show no differences in neuromuscular junction innervation or femoral axon counts, no protein aggregation, gliosis, or inflammation in the brain and spinal cord, and no synapse or neuron loss

cellular
• neurons show dispersion of nucleolin from the nucleolus suggesting a degree of nucleolar stress
• primary cortical cultures show RNA foci in 73% of cultured neurons and astrocytes
• however, primary cortical neuron cultures show normal frequency of calcium transients and sensitivity to glutamate toxicity

behavior/neurological
N
• mice show no abnormalities in body weight, grip strength, rotarod, open field testing analysis, in the Y-maze assessing memory and novelty-seeking behavior, or in the three-chamber test of sociability and social novelty at 3 and 18 months of age





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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory