Musk^em1Sjb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Musk^em1Sjb
• Name: muscle, skeletal, receptor tyrosine kinase; endonuclease-mediated mutation 1, Steven J Burden
• MGI ID: MGI:7488214
• Synonyms: MuSK^deltaFz
• Gene: Musk Location: Chr4:58285962-58374303 bp, + strand Genetic Position: Chr4, 31.87 cM
• Alliance: Musk^em1Sjb page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology deleted exons 9-12 which encodes for the Fz-like domain. DNA sequencing confirmed the joining of introns 8 and 12, deletion of exons 9-12, and in-frame splicing of RNA encoded by exons 8 and 13. Three founder lines were generated which contain small deletions (2, 11, or 18 bp) at the break sites in introns 8 and 12. This record is a representative line that contains the 2 bp deletion in addition to the exon 9-12 deletion. (J:232554)

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 Musk Mutation: 42 strains or lines available

References

• Original: J:232554 Remedio L, et al., Diverging roles for Lrp4 and Wnt signaling in neuromuscular synapse development during evolution. Genes Dev. 2016 May 1;30(9):1058-69
• All: 1 reference(s)