Prkn^rs13482876-C
Spontaneous Allele Detail

Summary

• Symbol: Prkn^rs13482876-C
• Name: parkin RBR E3 ubiquitin protein ligase; rs13482876 SNP allele with the C variant
• MGI ID: MGI:4456269
• Synonyms: Prkn^E398Q
• Gene: Prkn Location: Chr17:11059271-12282248 bp, + strand Genetic Position: Chr17, 7.8 cM, cytoband A3.2-A3.3
• Alliance: Prkn^rs13482876-C page

Mutation origin

• Strain of Origin: C3H

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: C3H/HeJ, A/J, CBA/J, DBA/2J and PWK/PhJ mice exhibit a G-to-C transversion (SNP rs13482876) that results in an amino acid substitution of glutamic acid with glutamine at position 398 (p.E398Q). This mutation is synonymous with the E399Q mutation observed in human parkin. Most mouse strains, including BALB/c, C57BL/6, and 129S, have the G variant coding for glutamic acid. (J:160271)

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:160271 Ramsey CP, et al., Identification and characterization of a novel endogenous murine parkin mutation. J Neurochem. 2010 Apr 1;113(2):402-17
• All: 1 reference(s)