Dnajb4^em2Sngi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dnajb4^em2Sngi
• Name: DnaJ heat shock protein family (Hsp40) member B4; endonuclease-mediated mutation 2, Satoru Noguchi
• MGI ID: MGI:7444112
• Gene: Dnajb4 Location: Chr3:151887217-151915720 bp, - strand Genetic Position: Chr3, 77.03 cM
• Alliance: Dnajb4^em2Sngi page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology generated a 2 bp insertion (c.269_270insGT) which is predicted to cause a frameshift at position 270 and generate a premature stop codon at 384. Western blot analysis confirmed the absence of protein in quadriceps femoris muscles from homozygotes. (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)