Best1^tm2.1Web
Targeted Allele Detail

Summary

• Symbol: Best1^tm2.1Web
• Name: bestrophin 1; targeted mutation 2.1, Bernhard H F Weber
• MGI ID: MGI:6378540
• Synonyms: Best1^Y227N
• Gene: Best1 Location: Chr19:9962538-9978997 bp, - strand Genetic Position: Chr19, 6.24 cM, cytoband B
• Alliance: Best1^tm2.1Web page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:280642
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: A T to A transversion that encodes a tyrosine to asparagine change at codon 227 (Y227N) was introduced into exon 6 via homologous recombination. A loxP-flanked neomycin phosphotransferase gene was inserted downstream of exon 6 and was removed via cre-mediated recombination. (J:280642)

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 Best1 Mutation: 28 strains or lines available

References

• Original: J:280642 Milenkovic A, et al., The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy. Biol Open. 2019 Jul 2;8(7):bio041335
• All: 1 reference(s)