Dnajb4^em1Sngi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dnajb4^em1Sngi
• Name: DnaJ heat shock protein family (Hsp40) member B4; endonuclease-mediated mutation 1, Satoru Noguchi
• MGI ID: MGI:7444110
• Synonyms: Dnajb4^F90L
• Gene: Dnajb4 Location: Chr3:151887217-151915720 bp, - strand Genetic Position: Chr3, 77.03 cM
• Alliance: Dnajb4^em1Sngi page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to A change at position 270 (c.270C>A) resulting in a phenylalanine to leuine substitution at amino acid 90 (p.F90L). This corresponds to the human c.270T>A (p.F90L) variant in the glycine/phenylalanine-rich domain identified in a family with a dominantly inherited distal myopathy. Additionally, two silent mutations were introduced to interrupt the protospacer adjacent motif (PAM) and crRNA sequences, preventing unwanted re-editing of the repaired template. Western blot analysis confirmed expression of protein in quadriceps femoris muscles. (J:333950)

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 Dnajb4 Mutation: 22 strains or lines available

References

• Original: J:333950 Inoue M, et al., Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Acta Neuropathol. 2023 Feb;145(2):235-255
• All: 1 reference(s)