Wfs1tm1.1Bedel
Targeted Allele Detail
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Symbol: |
Wfs1tm1.1Bedel |
Name: |
wolframin ER transmembrane glycoprotein; targeted mutation 1.1, Benjamin Delprat |
MGI ID: |
MGI:7571399 |
Synonyms: |
Wfs1E864K |
Gene: |
Wfs1 Location: Chr5:37123448-37146326 bp, - strand Genetic Position: Chr5, 19.46 cM
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Alliance: |
Wfs1tm1.1Bedel page
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Germline Transmission: |
Earliest citation of germline transmission:
J:342760
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
C57BL/6N
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Single point mutation
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Mutation details: Glutamic acid codon 864 (GAA) in exon 8 was changed to lysine (AAA) (c.2590G>A, p.E864K) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 8. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the same human mutation associated with Wolfram syndrome (WS).
(J:342760)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Wfs1 Mutation: |
43 strains or lines available
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Original: |
J:342760 Richard EM, et al., Wfs1(E864K) knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production. Cell Death Dis. 2023 Jun 29;14(6):387 |
All: |
1 reference(s) |
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