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

Symbol:	Drd3tm1Dac
Name:	dopamine receptor D3; targeted mutation 1, Domenico Accili
MGI ID:	MGI:1857159
Synonyms:	D3-, delta148(+30)
Gene:	Drd3  Location: Chr16:43574389-43643295 bp, + strand  Genetic Position: Chr16, 28.44 cM
Alliance:	Drd3tm1Dac page

Germline Transmission:	Earliest citation of germline transmission: J:32128
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A neomycin selection cassette and sequence encoding 30 non-endogenous residues was inserted into exon 2. RT-PCR analysis on RNA derived from brain of homozygous mice demonstrated the absence of normal transcript. Mutant transcript was detected in both heterozygous and homozygous mutant mice. Binding assays on brain sections derived from homozygous mice confirmed that no functional protein was expressed. Notably, heterozygotes displayed a nearly complete loss of D3-specific binding, to a greater extent than expected for a mutation affecting expression of one allele of the Drd3 gene, raising the possibility that this mutation acts in a dominant-negative fashion. (J:32128)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 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 Drd3 Mutation:	57 strains or lines available

Original:	J:32128 Accili D, et al., A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice. Proc Natl Acad Sci U S A. 1996 Mar 5;93(5):1945-9
All:	55 reference(s)