Hspb8^tm1Vti
Targeted Allele Detail

Summary

• Symbol: Hspb8^tm1Vti
• Name: heat shock protein 8; targeted mutation 1, Vincent Timmerman
• MGI ID: MGI:6392623
• Synonyms: Hspb8^K141N
• Gene: Hspb8 Location: Chr5:116546550-116560923 bp, - strand Genetic Position: Chr5, 56.41 cM
• Alliance: Hspb8^tm1Vti page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:284796
• Parent Cell Line: G4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NCrl)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A loxP site, a mutated exon 2 containing a G to C change at position 423 resulting in a lysine to asparagine mutation at amino acid 141 (K141N), an FRT-flanked neomycin selection cassette, and a loxP site replaced exon 2. (J:284796)

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 Hspb8 Mutation: 17 strains or lines available

References

• Original: J:284796 Bouhy D, et al., A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8. Acta Neuropathol. 2018 Jan;135(1):131-148
• All: 2 reference(s)