| Primary Identifier | MGI:7614248 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Hspb1 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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). |
