Allele/Variant

Prodhm1Kara

Species
Mus musculus
Symbol
Prodhm1Kara
Category
allele
Allele of gene
Prodh
Transgenic Constructs
None
Synonyms
  • Prodh-
Description
A G-to-T transversion results in a nonsense mutation at glutamic acid codon 555 (ENSMUSP00000003620 p.E555*) in a conserved carboxy terminal region 135 bp upstream of the native stop codon. The presence of the mutation has been correlated with increased proline levels and is believed to be responsible for hyperprolinaemia observed in the Pro/Re strain. Full length transcript was identified by Northern blot analysis.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations