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

Symbol:	Park7tm1Dsp
Name:	Parkinson disease (autosomal recessive, early onset) 7; targeted mutation 1, David S Park
MGI ID:	MGI:3576227
Synonyms:	DJ-1-, Park7tm1Mak
Gene:	Park7  Location: Chr4:150981590-150994378 bp, - strand  Genetic Position: Chr4, 81.52 cM, cytoband E1
Alliance:	Park7tm1Dsp page

Germline Transmission:	Earliest citation of germline transmission: J:97366
Parent Cell Line:	E14K (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion, Nucleotide substitutions   Mutation details: Exons 3-5 were replaced with a neomycin resistance gene. Exon 1 was modified to contain a premature stop codon, resulting in a transcript containing only the first 8 amino acids. Absence of transcript was confirmed by Northern blot of RNA from mutant MEFs. Absence of protein was shown by Western blot of mutant cortical neurons. (J:97366)

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Park7 Mutation:	53 strains or lines available

Original:	J:97366 Kim RH, et al., Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress. Proc Natl Acad Sci U S A. 2005 Apr 5;102(14):5215-20
All:	15 reference(s)