Best1^tm1.1Amar
Targeted Allele Detail

Summary

• Symbol: Best1^tm1.1Amar
• Name: bestrophin 1; targeted mutation 1.1, Alan Marmorstein
• MGI ID: MGI:4443333
• Synonyms: Best1^W93C
• Gene: Best1 Location: Chr19:9962538-9978997 bp, - strand Genetic Position: Chr19, 6.24 cM, cytoband B
• Alliance: Best1^tm1.1Amar page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:157645
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Intragenic deletion, Single point mutation
• Mutation details: Single nucleotide change was introduced to the endogenous gene by homologous recombination. The floxed neo selection cassette was introduced into intronic sequence and removed by subsequent cross with cre expressing mice. The mutation represent W93C disease causing mutation of the gene in human. (J:157645)

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 Best1 Mutation: 27 strains or lines available

References

• Original: J:157645 Zhang Y, et al., Suppression of Ca2+ signaling in a mouse model of Best disease. Hum Mol Genet. 2010 Mar 15;19(6):1108-18
• All: 1 reference(s)