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Targeted Allele Detail
Symbol: Musktm2Vwi
Name: muscle, skeletal, receptor tyrosine kinase; targeted mutation 2, Veit Witzemann
MGI ID: MGI:3815474
Synonyms: muskV789M
Gene: Musk  Location: Chr4:58285962-58374303 bp, + strand  Genetic Position: Chr4, 31.87 cM
Germline Transmission:  Earliest citation of germline transmission: J:141024
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
Mutation detailsThe 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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:  10 strains or lines available
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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.04
The Jackson Laboratory