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

Symbol:	Prkntm1Ccs
Name:	parkin RBR E3 ubiquitin protein ligase; targeted mutation 1, Christine C Stichel
MGI ID:	MGI:3764690
Synonyms:	pa-, parkin-
Gene:	Prkn  Location: Chr17:11059271-12282248 bp, + strand  Genetic Position: Chr17, 7.8 cM, cytoband A3.2-A3.3
Alliance:	Prkntm1Ccs page

Germline Transmission:	Earliest citation of germline transmission: J:127707
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 3 was replaced with a neo-loxP cassette resulting in a frameshift mutation after amino acid 57. The shortened transcript was confirmed by RT-PCR analysis on brain tissue. The lack of protein production was confirmed by western blot analysis on total brain protein using a polyclonal antibody against the N-terminus. (J:127707)

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

In Structures Affected by this Mutation:

3 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 Prkn Mutation:	54 strains or lines available

Original:	J:127707 Stichel CC, et al., Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage. Hum Mol Genet. 2007 Oct 15;16(20):3377-93
All:	6 reference(s)