Prkn^rs13482876-G
Spontaneous Allele Detail

Summary

• Symbol: Prkn^rs13482876-G
• Name: parkin RBR E3 ubiquitin protein ligase; rs13482876 SNP allele with the G variant
• MGI ID: MGI:6436579
• Synonyms: Prkn⁺
• Gene: Prkn Location: Chr17:11059271-12282248 bp, + strand Genetic Position: Chr17, 7.8 cM, cytoband A3.2-A3.3
• Alliance: Prkn^rs13482876-G page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous (No functional change)
• Mutation: Single point mutation
• Mutation details: Most mouse strains, including BALB/c, C57BL/6, and 129S, have this G variant of SNP rs13482876 coding for glutamic acid at position 398. C3H/HeJ, A/J, CBA/J, DBA/2J and PWK/PhJ mice exhibit a G-to-C transversion that results in an amino acid substitution of glutamic acid with glutamine at position 398 (p.E398Q). That mutation is synonymous with the E399Q mutation observed in human parkin. (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)