Mybpc1^em1Lbmc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mybpc1^em1Lbmc
• Name: myosin binding protein C, slow-type; endonuclease-mediated mutation 1, Latvian Biomedical Research and Study Centre
• MGI ID: MGI:7256880
• Synonyms: Mybpc1(Y248H)
• Gene: Mybpc1 Location: Chr10:88354141-88441014 bp, - strand Genetic Position: Chr10, 43.99 cM
• Alliance: Mybpc1^em1Lbmc page

Mutation origin

• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting induced a point mutation that mimics the human mutation in patients with congenital myopathy with tremor (Y248H). (J:322115)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Mybpc1 Mutation: 78 strains or lines available

References

• Original: J:322115 Stavusis J, et al., Second model for the MYBPC1-associated myopathy with myogenic tremor. MGI Direct Data Submission. 2022
• All: 1 reference(s)