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Targeted Allele Detail
Symbol: Disc1tm1Kara
Name: disrupted in schizophrenia 1; targeted mutation 1, Maria Karayiorgou
MGI ID: MGI:3623218
Gene: Disc1  Location: Chr8:125054195-125261858 bp, + strand  Genetic Position: Chr8, 73.26 cM
Germline Transmission:  Earliest citation of germline transmission: J:107244
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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
Carrying any Disc1 Mutation:  23 strains or lines available
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
All:  5 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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