Prkntm1Roo
Targeted Allele Detail
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Symbol: |
Prkntm1Roo |
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
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Alliance: |
Prkntm1Roo page
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Germline Transmission: |
Earliest citation of germline transmission:
J:85561
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Parent Cell Line: |
CK35 (ES Cell)
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Strain of Origin: |
129S2/SvPas
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Prkn Mutation: |
54 strains or lines available
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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) |
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