Dok7^tm2Yyam
Targeted Allele Detail

Summary

• Symbol: Dok7^tm2Yyam
• Name: docking protein 7; targeted mutation 2, Yuji Yamanashi
• MGI ID: MGI:5636724
• Synonyms: Dok-7^KI
• Gene: Dok7 Location: Chr5:35214110-35245183 bp, + strand Genetic Position: Chr5, 18.0 cM
• Alliance: Dok7^tm2Yyam page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:213767
• Parent Cell Line: E14K (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutation: Insertion
• Mutation details: A frame shift mutation, c.1124_1127dupTGCC (p.Ala378Serfs), corresponding to the most prevalent mutation in familial limb-girdle myasthenia, was introduced into exon 7. In addition, a PGK-neo was inserted after exon 7. (J:213767)

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 Dok7 Mutation: 30 strains or lines available

References

• Original: J:213767 Arimura S, et al., Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction. Science. 2014 Sep 19;345(6203):1505-8
• All: 2 reference(s)