Musk^tm2Vwi
Targeted Allele Detail

Summary

• Symbol: Musk^tm2Vwi
• Name: muscle, skeletal, receptor tyrosine kinase; targeted mutation 2, Veit Witzemann
• MGI ID: MGI:3815474
• Synonyms: musk^V789M
• Gene: Musk Location: Chr4:58285962-58374303 bp, + strand Genetic Position: Chr4, 31.87 cM
• Alliance: Musk^tm2Vwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:141024
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: The exon encoding the SDV-XI tyrosine kinase domain was replaced with one in which a G->A transition at position 2365 (c.2365G>A) results in the amino acid substitution of methionine for valine at position 789 (V789M). This mutation is homologous to the V790M mutation identified in human patients with congenital myasthenic syndrome. The modified exon along with an upstream neo cassette are flanked by loxP sites. (J:141024)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Musk Mutation: 42 strains or lines available

References

• Original: J:141024 Chevessier F, et al., A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions. Hum Mol Genet. 2008 Nov 15;17(22):3577-95
• All: 2 reference(s)