Homozygous mutant mice show severe hyperphenylalanemia. They are hypopigmented unless maintained on a low phenylalanine diet. Females are fertile but do not rear their young when maintained on a standard mouse diet. The coat color of the background strain, BTBR +T tf/tf, is black and tan (at/at). This strain is also homozygous for the gene tufted (tf/tf) resulting in various molting patterns in the mouse coat. These effects, limited to the mouse coat, may make the mice appear malformed.
In The Jackson Laboratory Stock No. 002232 colony, homozygous prewean pups are black and tan. They molt at 3-4 weeks of age, but when the fur grows back, the mice are brown and tan. When breeders lose their fur at an older age, it doesn't generally grow back. Our colony shows a very low percentage of mice that appear black and tan after 6-7 weeks old.
Of note, the Pahenu2 mutation is also available on a congenic C57BL/6J background as Stock No. 029218.
This strain was 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.
|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 females may be bred to homozygous males.
Technician's Note: This strain breeds well and does not require any special husbandry. The Jackson Laboratory maintains their colony on a 6% fat diet. The average litter size is 8-12 pups. The expected coat color from breeding is Black with Brown.
When using the PAHenu2 mouse strain in a publication, please cite the originating article(s) and include JAX stock #002232 in your Materials and Methods section.