Disc1^Rgsc1393
Chemically induced Allele Detail

Summary

• Symbol: Disc1^Rgsc1393
• Name: disrupted in schizophrenia 1; RIKEN Genomic Sciences Center (GSC), 1393
• MGI ID: MGI:3707419
• Synonyms: 31L, Disc1^Q31L, Q31L
• Gene: Disc1 Location: Chr8:125780934-125988597 bp, + strand Genetic Position: Chr8, 73.26 cM
• Alliance: Disc1^Rgsc1393 page

Mutation origin

• Strain of Origin: (DBA/2JJcl x C57BL/6JJcl)F1
• Project Collection: RIKEN GSC ENU Project

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation, identified by temperature gradient capillary electrophoresis (TGCE) heteroduplex screening for ENU-induced mutations in exon 2 of the gene, comprises an A-to-T transversion resulting in replacement of glutamine by leucine at amino acid position 31 (Q31L) of the protein, immediately adjacent to a predicted nuclear localization signal. Immunoblot analysis of brain extracts with an anti-DISC1 antibody followed by densitometric analysis demonstrates the presence of similar amounts of the major protein isoforms in mutant and wild-type brains. DISC1 is also similarly distributed among subcellular fractions (except the nucleus, which was not analyzed) of mutant and wild-type brains. (J:120634)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Disc1 Mutation: 69 strains or lines available

Notes

Binding of mutant DISC1 to phosphodiesterase-4B, cAMP specific, isoform 1 (PDE4B1) is significantly reduced (p<0.05), and PDE4 activity is reduced by 50% in mutant versus wild-type brain extracts. (J:120634)

References

• Original: J:120634 Clapcote SJ, et al., Behavioral phenotypes of disc1 missense mutations in mice. Neuron. 2007 May 3;54(3):387-402
• All: 11 reference(s)