Pahenu2 mice on a C57BL/6J congenic background may be useful when studying phenylketonuria (PKU).
Michael Allen, University of North Texas Health Science Center
Homozygous mutant mice display severe hyperphenylalaninemia and other hallmarks of phenylketonuria (PKU) when not maintained on a phenylalanine-free diet. Hyperphenylalaninemia leads to progressive neurological symptoms and seizures. Mice are hypopigmented on a standard diet. Homozygous females and males are viable, however homozygous females with PKU will not rear their young when maintained on a standard mouse diet.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype of these C57BL/6J-congenic mice could vary from that originally described on a BTBR genetic background. We may modify the strain description if necessary as published results become available.
Pahenu2 mice were developed in the laboratory of Dr. Alexandra Shedlovsky at the McArdle Laboratory for Cancer Research, University of Wisconsin. The mutation was generated by ENU treatment of BTBR +T tf/tf males and progeny were selected for severe hyperphenylalaninemia. A T835C missense mutation in exon 7 of the phenylalanine hydroxylase (Pah) gene results in a phenylalanine to serine substitution at amino acid 263 (F263S). These mice, on BTBR background, are available as Stock No. 002232. Dr. Michael Allen (University of North Texas Health Science Center) backcrossed these mice to C57BL/6J mice (Stock No. 000664) for many generations to make this congenic stock JR 029218. Upon arrival, sperm was cryopreserved. To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6J oocytes. The tf/tf allele was bred out of the colony.
|Allele Name||phenylalanine hydroxylase enu 2|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Pah, phenylalanine hydroxylase|
|Strain of Origin||BTBR|
|Molecular Note||A T835C missense mutation in exon 7 results in a phenylalanine to serine substitution at amino acid 263 (F263S).|
|Mutations Made By|| |
Dr. William Dove, University of Wisconsin- Madison
When maintaining a live colony, heterozygous mice may be bred to wildtype mice from the colony or C57BL/6J inbred mice (Stock No. 000664) if not maintained on a phenylalanine-free diet. If using a phenylalanine-free diet, homozygous males and females are viable and fertile and may be bred together.
When using the B6 Pahenu2 mouse strain in a publication, please cite the originating article(s) and include JAX stock #029218 in your Materials and Methods section.