Ush1c^tm1Bkts
Targeted Allele Detail

Summary

• Symbol: Ush1c^tm1Bkts
• Name: USH1 protein network component harmonin; targeted mutation 1, Bronya Keats
• MGI ID: MGI:3699259
• Synonyms: 216AA, Ush1c216A, Ush1c216AA
• Gene: Ush1c Location: Chr7:45844774-45887927 bp, - strand Genetic Position: Chr7, 29.66 cM, cytoband B3
• Alliance: Ush1c^tm1Bkts page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:118248
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A targeting vector introduced the g216a nucleotide substitution to recreate a human cryptic splice site mutation found in Usher syndrome patients. (J:118248)

Disease models

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 Ush1c Mutation: 50 strains or lines available

References

• Original: J:118248 Lentz J, et al., Ush1c216A knock-in mouse survives Katrina. Mutat Res. 2007 Mar 1;616(1-2):139-44
• All: 8 reference(s)