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Chemically induced Allele Detail
Symbol: Disc1Rgsc1390
Name: disrupted in schizophrenia 1; RIKEN Genomic Sciences Center (GSC), 1390
MGI ID: MGI:3707421
Synonyms: 100P, Disc1L100P, L100P
Gene: Disc1  Location: Chr8:125054195-125261858 bp, + strand  Genetic Position: Chr8, 73.26 cM
Strain of Origin:  (DBA/2JJcl x C57BL/6JJcl)F1
Project Collection: RIKEN GSC ENU Project
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis mutation, identified by temperature gradient capillary electrophoresis (TGCE) heteroduplex screening for ENU-induced mutations in exon 2 of the gene, comprises a T-to-C transition resulting in replacement of proline by leucine at amino acid position 100 of the protein. 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:    Dominant
View phenotypes for all genotypes (concatenated display).
Disease models
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:  39 strains or lines available
Binding of mutant DISC1 to phosphodiesterase-4B, cAMP specific, isoform 1 (PDE4B1) is significantly reduced (p<0.001), but PDE4B activity is similar in mutant and wild-type brain extracts. (J:120634)
Original:  J:120634 Clapcote SJ, et al., Behavioral phenotypes of disc1 missense mutations in mice. Neuron. 2007 May 3;54(3):387-402
All:  14 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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last database update
MGI 6.07
The Jackson Laboratory