(C3H/HeJ x CAST/EiJ-Hps1^ep-7J/GrsrJ)F1

Stock number: 021491

Description

This mutation provides a model for Hermansky-Pudlak syndrome and is part of an allelic series in the Hps1 gene.

Detailed description

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.

Development

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

Symbol: Hps1^ep-7J
Name: pale ear 7 Jackson
MGI accession ID: MGI:5500910
Generation method: Spontaneous
Marker symbol: Hps1
Marker name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
Marker synonyms: 6030422N11Rik; BLOC3S1; Hermansky-Pudlak syndrome 1; HPS
Chromosome: 19
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.