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| Nomenclature |
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Symbol:
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Best1tm1.1Amar
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Name:
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bestrophin 1;
targeted mutation 1.1, Alan Marmorstein
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MGI ID: |
MGI:4443333 |
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Synonyms: |
Best1W93C |
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Gene:
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Best1
Location:
Chr19:9985174-10001633 bp, - strand
Genetic Position: Chr19,
6.24 cM, cytoband B
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:157645
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion, Single point mutation |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Best1 Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
