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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 and curated references 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:  45 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:  19 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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MGI 6.11
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