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Disc1Rgsc1393
Chemically induced Allele Detail
Nomenclature
Symbol: Disc1Rgsc1393
Name: disrupted in schizophrenia 1; RIKEN Genomic Sciences Center (GSC), 1393
MGI ID: MGI:3707419
Synonyms: 31L, Disc1Q31L, Q31L
Gene: Disc1  Location: Chr8:125054195-125261858 bp, + strand  Genetic Position: Chr8, 73.26 cM
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 detailsThis 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
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Disc1 Mutation:  23 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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/24/2015
MGI 5.21
The Jackson Laboratory