Prkn^tm1Tmd
Targeted Allele Detail

Summary

• Symbol: Prkn^tm1Tmd
• Name: parkin RBR E3 ubiquitin protein ligase; targeted mutation 1, Ted M Dawson
• MGI ID: MGI:3050230
• Gene: Prkn Location: Chr17:11059271-12282248 bp, + strand Genetic Position: Chr17, 7.8 cM, cytoband A3.2-A3.3
• Alliance: Prkn^tm1Tmd page

Decrease in tyrosine hydroxylase (TH) containing neurons in the locus coeruleus (LC) of Prkn^tm1Tmd/Prkn^tm1Tmd mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:91487
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: Cre-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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 anatomical structure(s)

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: 54 strains or lines available

References

• 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: 12 reference(s)