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Best1tm1Lmar
Targeted Allele Detail
Summary
Symbol: Best1tm1Lmar
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: Best1tm1Lmar 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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  28 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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory