Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	Disc1Rgsc1390
Name:	disrupted in schizophrenia 1; RIKEN Genomic Sciences Center (GSC), 1390
MGI ID:	MGI:3707421
Synonyms:	100P, Disc1L100P, L100P
Gene:	Disc1  Location: Chr8:125780934-125988597 bp, + strand  Genetic Position: Chr8, 73.26 cM
Alliance:	Disc1Rgsc1390 page

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 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 leucine with proline 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).

In Structures Affected by this Mutation:

5 anatomical structure(s)

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

Original:	J:120634 Clapcote SJ, et al., Behavioral phenotypes of disc1 missense mutations in mice. Neuron. 2007 May 3;54(3):387-402
All:	23 reference(s)