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| Nomenclature |
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Symbol:
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Disc1Rgsc1390
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Name:
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disrupted in schizophrenia 1;
RIKEN Genomic Sciences Center (GSC), 1390
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MGI ID: |
MGI:3707421 |
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Synonyms: |
100P, Disc1L100P, L100P |
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Gene:
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Disc1
Location:
Chr8:125054195-125261858 bp, + strand
Genetic Position: Chr8,
73.26 cM
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Mutation
origin |
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Strain of Origin:
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(DBA/2JJcl x C57BL/6JJcl)F1
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: This 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)
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Inheritance: | |
Dominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
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)
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| References |
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Original: |
J:120634
Clapcote SJ et al.,
"Behavioral phenotypes of disc1 missense mutations in mice."
Neuron 2007 May 3;54(3):387-402
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All: |
7 reference(s)
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Analysis Tools
