These mice carry an ENU-induced mutation characterized by hyperphenylalanemia and urinary excretion of phenylketones after injection of phenylalanine. This mutant provides a useful genetic animal model affected in the same enzyme as in human phenylketonuria.
Dr. Alexandra Shedlovsky, University of Wisconsin , Madison
Homozygous mutant mice show a delay in the clearing of a load of phenylalanine.
|Allele Name||phenylalanine hydroxylase enu 1|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||PAHenu2; Pahhph-5|
|Gene Symbol and Name||Pah, phenylalanine hydroxylase|
|Strain of Origin||(101 x C3H)F1|
|Molecular Note||A T364C missense mutation in exon 3 results in a valine to alanine substitution at amino acid 106 (V106A).|
|Mutations Made By|| |
Dr. William Dove, University of Wisconsin- Madison