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Targeted Allele Detail
Symbol: Prkntm1Tmd
Name: parkin RBR E3 ubiquitin protein ligase; targeted mutation 1, Ted M Dawson
MGI ID: MGI:3050230
Gene: Prkn  Location: Chr17:10840384-12063361 bp, + strand  Genetic Position: Chr17, 7.8 cM, cytoband A3.2-A3.3
Decrease in tyrosine hydroxylase (TH) containing neurons in the locus coeruleus (LC) of Prkntm1Tmd/Prkntm1Tmd mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:91487
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsCre-mediated recombination excised exon 7 and a 3' FRT-flanked neo, which had been inserted via homologous recombination, in the germ line. Because exon 7 contains a nonintegral number of codons, a deletion of it results in a frame shift after amino acid 243 and premature stop codon in exon 8 after 8 amino acids. Northern blot detected transcript slightly smaller than that of wild-type, and RT-PCR confirmed it was the result of the deletion of exon 7. Western blot failed to detect protein in mutant mice brains. (J:91487)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Prkn Mutation:  29 strains or lines available
Original:  J:91487 Von Coelln R, et al., Loss of locus coeruleus neurons and reduced startle in parkin null mice. Proc Natl Acad Sci U S A. 2004 Jul 20;101(29):10744-9
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.14
The Jackson Laboratory