Hspb1^em1Mvw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hspb1^em1Mvw
• Name: heat shock protein 1; endonuclease-mediated mutation 1, Michael Wiles
• MGI ID: MGI:7614248
• Synonyms: HSP^S139F
• Gene: Hspb1 Location: Chr5:135916773-135918417 bp, + strand Genetic Position: Chr5, 75.51 cM
• Alliance: Hspb1^em1Mvw page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Using CRISPR/Cas9, a point mutation (TCT to TTT) in the heat shock protein 1 (Hspb1) locus on chromosome 5 was introduced. The nucleotide substitution results in an S139F mutation in mouse Hsp25 coded by the Hspb1 gene, which corresponds to the S135F point mutation in human Hsp27; a common mutation found in Charcot-Marie-Tooth Disease Type 2F (CMT2F). (J:346046)

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 Hspb1 Mutation: 18 strains or lines available

References

• Original: J:346046 Espinoza KS, et al., A novel HSPB1(S139F) mouse model of Charcot-Marie-Tooth Disease. Prostaglandins Other Lipid Mediat. 2023 Dec;169:106769
• All: 1 reference(s)