Twnk^tm1.1Suom
Targeted Allele Detail

Summary

• Symbol: Twnk^tm1.1Suom
• Name: twinkle mtDNA helicase; targeted mutation 1.1, Anu Suomalainen
• MGI ID: MGI:8226835
• Synonyms: IOSCA mice
• Gene: Twnk Location: Chr19:44994102-45001201 bp, + strand Genetic Position: Chr19, 38.19 cM
• Alliance: Twnk^tm1.1Suom page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:235406
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: An A to G change at position 1526 (c.A1526G) resulting in a tyrosine to cysteine substitution at amino acid 509 (p.Y509C) was introduced in exon 3. A loxP site was inserted upstream of this mutated exon 3 and a second loxP site downstream of exon 4. An FRT-flanked neomycin selection cassette was inserted in reverse orientation downstream of the second loxP site and was removed via flp-mediated recombination. The Y509C mutation is homologous to the human Y508C mutation in infantile onset spinocerebellar ataxia (IOSCA) patients. (J:235406)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Twnk Mutation: 27 strains or lines available

References

• Original: J:235406 Nikkanen J, et al., Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism. Cell Metab. 2016 Apr 12;23(4):635-48
• All: 4 reference(s)