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| Nomenclature |
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Symbol:
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Lgi1tm1Mafu
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Name:
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leucine-rich repeat LGI family, member 1;
targeted mutation 1, Masaki Fukata
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MGI ID: |
MGI:4437105 |
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Gene:
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Lgi1
Location:
Chr19:38264782-38308939 bp, + strand
Genetic Position: Chr19,
32.9 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:157578
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Parent Cell Line:
| iTL BA1 (ES Cell) |
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Strain of Origin:
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(C57BL/6NTac x 129S6/SvEvTac)F1
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exons 1 and 2 were replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis on brain extracts. (J:157578)
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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 Lgi1 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:157578
Fukata Y et al.,
"Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy."
Proc Natl Acad Sci U S A 2010 Feb 23;107(8):3799-3804
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All: |
1 reference(s)
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