Prkdc^dxnph

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Species

Mus musculus

Symbol

Prkdc^dxnph

Category

allele

Allele of gene

Prkdc

Transgenic Constructs

None

Synonyms

• Prkdc^BALB/c

Description

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).

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations