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| Nomenclature |
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Symbol:
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Shank3tm1.2Bux
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Name:
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SH3/ankyrin domain gene 3;
targeted mutation 1.2, Joseph D Buxbaum
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MGI ID: |
MGI:5285394 |
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Gene:
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Shank3
Location:
Chr15:89499623-89560261 bp, + strand
Genetic Position: Chr15,
44.96 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:175320
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Parent Cell Line:
| Bruce 4 (ES Cell) |
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Strain of Origin:
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B6.Cg-Thy1a
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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: A loxP site was inserted upstream of exon 4 and an FRT flanked neo cassette and second loxP site were inserted downstream of exon 9 via homologous recombination. Flp mediated recombination removed the neo cassette. Cre mediated recombination removed exons 4 - 9. Quantitative PCR and immunoblot analysis confirmed the absence of mRNA and protein expression in homozygous mice. (J:175320)
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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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| References |
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Original: |
J:175320
Bozdagi O et al.,
"Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication."
Mol Autism 2010;1(1):15
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All: |
2 reference(s)
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Analysis Tools
