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| Nomenclature |
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Symbol:
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Disc1tm1Kara
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Name:
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disrupted in schizophrenia 1;
targeted mutation 1, Maria Karayiorgou
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MGI ID: |
MGI:3623218 |
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Gene:
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Disc1
Location:
Chr8:125054195-125261858 bp, + strand
Genetic Position: Chr8,
73.26 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:107244
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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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 targeting vector was designed using the self-excisable pACN cassette. The vector contained a neo and a bovine growth hormone polyA sequence, and a stop codon at the end of exon 8. The neo was excised upon germ-line transmission, leaving the stop codon in exon 8. However, there is the 129S6/SvEvTac-specific 25 bp deletion (Disc1129S6) in exon 6 and the resultant premature termination in exon 7 takes precedence over and overrides the effect of the artificial premature termination codon in the adjacent exon 8. RT-PCR confirmed the truncated transcript from mutant brain. It was unclear if protein was created as a prominent ~62 kDa signal may have masked the ~58 kDa mutant protein. However, the results of protein analysis in Western blots from brain extracts were consistent with truncation in exon 7. (J:107244)
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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 Disc1 Mutation:
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22 strains or lines available |
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| References |
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Original: |
J:107244
Koike H et al.,
"Disc1 is mutated in the 129S6/SvEv strain and modulates working memory in mice."
Proc Natl Acad Sci U S A 2006 Mar 7;103(10):3693-7
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All: |
4 reference(s)
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Analysis Tools
