Best1^tm1Lmar
Targeted Allele Detail

Summary

• Symbol: Best1^tm1Lmar
• Name: bestrophin 1; targeted mutation 1, Lihua Marmorstein
• MGI ID: MGI:3795281
• Synonyms: Vmd2^-
• Gene: Best1 Location: Chr19:9962538-9978997 bp, - strand Genetic Position: Chr19, 6.24 cM, cytoband B
• Alliance: Best1^tm1Lmar page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:136113
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin selection cassette replaced a region beginning 500 bp upstream of the initiation codon and including all of exon 1. RT-PCR analysis indicated that no detectable transcript is expressed from this allele, and immunohistochemistry on retinal pigment epithelium showed that no expressed protein is present. (J:136113)

Expression

In Structures Affected by this Mutation:

1 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:136113 Marmorstein LY, et al., The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol. 2006 May;127(5):577-89
• All: 6 reference(s)