Prkn^tm1Roo
Targeted Allele Detail

Summary

• Symbol: Prkn^tm1Roo
• Name: parkin RBR E3 ubiquitin protein ligase; targeted mutation 1, Thomas A Rooney
• MGI ID: MGI:2678247
• Synonyms: PK^-
• Gene: Prkn Location: Chr17:11059271-12282248 bp, + strand Genetic Position: Chr17, 7.8 cM, cytoband A3.2-A3.3
• Alliance: Prkn^tm1Roo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:85561
• Parent Cell Line: CK35 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: All but 62 5' bp of exon 3 was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encompassed 179 bp of exon 3 and 918 bp of intron 3. Northern blot and RT-PCR analyses showed an absence of wild-type transcript but identified a mutant transcript in which exon 3 was skipped and exons 2 and 4 spliced. Sequence analysis of the aberrant trancscript indicated a frameshift mutation beginning at position 57 and resulting in a stop codon at position 105. Protein was undetected by Western blot analysis using an antibody directed against residues 71 through 92. (J:85561)

Disease models

Expression

In Structures Affected by this Mutation:

5 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: 55 strains or lines available

References

• Original: J:85561 Itier JM, et al., Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Hum Mol Genet. 2003 Sep 15;12(18):2277-91
• All: 34 reference(s)