Mice homozygous for the pale ear 7 Jackson mutation have diluted pigmentation that makes normally agouti-colored mice appear similar to brown agouti with pale ears and tail. Males and females are fertile although there may be an increase in the number of stillborn or pre-wean deaths.
The pale ear 7 Jackson mutation arose spontaneously on the CAST/EiJ background and was maintained co-isogenic on that background until sperm from homozygous males was cryopreserved. Cryo-recovery is scheduled to use eggs from C3H/HeJ females.
|Allele Name||pale ear 7 Jackson|
|Gene Symbol and Name||Hps1, HPS1, biogenesis of lysosomal organelles complex 3 subunit 1|
|Strain of Origin||CAST/EiJ|
|Molecular Note||A spontaneous single nucleotide C-to-A transversion at chromosome 19 position 42,778,139 (GRCm38) causes a premature stop codon from a glutamic acid codon at residue 34 (p.E34*) of the 704 amino acid protein.|