About   Help   FAQ
Disc1tm1Kara
Targeted Allele Detail
Nomenclature
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:107244
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
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)
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
Find Mice (IMSR)
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
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/25/2015
MGI 5.21
The Jackson Laboratory