Fkrp^em1Lgmd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fkrp^em1Lgmd
• Name: fukutin related protein; endonuclease-mediated mutation 1, Jean-Pierre Laurent
• MGI ID: MGI:6386788
• Synonyms: Fkrp^P448L
• Gene: Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
• Alliance: Fkrp^em1Lgmd page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 genome editing is used to introduce a c.1343 C-to T point mutation (p.Pro448Leu, P448L), and an additional nucleotide change encoding a silent mutation (P451P, CCC to CCA). The mutation is associated with severe congenital muscular dystrophy (CMD). (J:101977)

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 Fkrp Mutation: 21 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 4 reference(s)