Disc1^tm1Kara
Targeted Allele Detail

Summary

• Symbol: Disc1^tm1Kara
• Name: disrupted in schizophrenia 1; targeted mutation 1, Maria Karayiorgou
• MGI ID: MGI:3623218
• Gene: Disc1 Location: Chr8:125780934-125988597 bp, + strand Genetic Position: Chr8, 73.26 cM
• Alliance: Disc1^tm1Kara page

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 details: A targeting vector was designed using the self-excisable pACN cassette. The vector contained a neomycin resistance gene cassette and a bovine growth hormone polyA sequence, plus a stop codon at the end of exon 8. The neo cassette was excised upon germ-line transmission, leaving the stop codon in exon 8. However, there is a 129S6/SvEvTac-specific 25 bp deletion (Disc1^del) 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)

Disease models

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: 69 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: 14 reference(s)