Atl1^tm1.1Cbla
Targeted Allele Detail

Summary

• Symbol: Atl1^tm1.1Cbla
• Name: atlastin GTPase 1; targeted mutation 1.1, Craig Blackstone
• MGI ID: MGI:7463984
• Synonyms: Atl1^KI
• Gene: Atl1 Location: Chr12:69939879-70010859 bp, + strand Genetic Position: Chr12, 28.94 cM
• Alliance: Atl1^tm1.1Cbla page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:334532
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An AA to GC change resulting in a lysine to alanine substitution at amino acid 80 (p.K80A) was introduced in exon 3. In addition, a loxP site was inserted upstream of exon 3 and an FRT-flanked neomycin resistance cassette and second loxP site were inserted downstream of exon 3. The neomycin resistance cassette was removed via flp-mediated recombination. The p.K80A missense changes abolishes its GPTase activity. qPCR indicates that mRNA levels are similar to wild-type levels, however mutant protein levels in the brain and spinal cord are moderately lower. (J:334532)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Atl1 Mutation: 29 strains or lines available

References

• Original: J:334532 Zhu PP, et al., Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons. Hum Mol Genet. 2022 Aug 23;31(16):2779-2795
• All: 1 reference(s)