Prodh^m1Kara

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Species

Mus musculus

Symbol

Prodh^m1Kara

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

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations