Prkdc^dxnph
Spontaneous Allele Detail

Summary

• Symbol: Prkdc^dxnph
• Name: protein kinase, DNA activated, catalytic polypeptide; doxorubicin nephropathy
• MGI ID: MGI:3574427
• Synonyms: Prkdc^BALB/c
• Gene: Prkdc Location: Chr16:15455730-15660099 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Prkdc^dxnph page

Mutation origin

• Strain of Origin: multiple strains

Mutation description

• Allele Type: Spontaneous
• Mutation: Undefined
• Mutation details: Several inbred strain (BALB/cHeA, BALB/cAnN, 129/SvJ, and C.B17) harbors an A-to-G transition at position 11530 resulting in a methonine to valine substitution at codon 3844 and a C-to-T transition at position 6418 resulting in an arginine to cysteine substitution at codon 2140. This allele is associated with decreased gene expression and protein activity and severe susceptibility to induced nephropathy. C57BL6/J, FVB/NJ and CAST/EiJ demonstrated strong resistance to DOX nephropathy. The susceptibility allele contains a C6418T transition in exon 48 that results in the amino acid substitution of cystein for arginine at position 2140 (R2140C). (J:70283, J:96632, J:166909)
• Inheritance: Recessive

Expression

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 Prkdc Mutation: 408 strains or lines available

Notes

This allele is not present in STS/A, C57BL/6J, B10.SnA, CBA/J, DBA/2N, C3H/HeL, MSN.Ms, ddN, AKR/Sea and O20.

References

• Original: J:68487 Yu Y, et al., Elevated breast cancer risk in irradiated BALB/c mice associates with unique functional polymorphism of the Prkdc (DNA-dependent protein kinase catalytic subunit) gene. Cancer Res. 2001 Mar 1;61(5):1820-4
• All: 6 reference(s)