Setx^tm1.1Als
Targeted Allele Detail

Summary

• Symbol: Setx^tm1.1Als
• Name: senataxin; targeted mutation 1.1, Albert La Spada
• MGI ID: MGI:6881752
• Synonyms: Setx-L389S
• Gene: Setx Location: Chr2:29014193-29072483 bp, + strand Genetic Position: Chr2, 19.45 cM
• Alliance: Setx^tm1.1Als page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:320844
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A leucine to serine substitution at position 389 (L389S) was introduced in exon 10 and a loxP-flanked neomycin resistance was inserted upstream of exon 10 and then removed via cre-mediated recombination. The L389S mutation is one of two identified to date in individuals with amyotrophic lateral sclerosis type 4 (ALS4). (J:320844)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Setx Mutation: 141 strains or lines available

References

• Original: J:320844 Bennett CL, et al., Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathol. 2018 Sep;136(3):425-443
• All: 2 reference(s)