B6 x C3H/HeJ-Hps6^ru-6J/J

Stock number: 002424
Product name: ruby-eye 6 Jackson

Detailed description

These mice carry a spontaneous re-mutation at the Hps6 locus. Ruby-eye mutations result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect. They may be useful as models of the human Hermansky-Pudlak syndrome.

Allele

Symbol: Hps6^ru-6J
Name: ruby-eye 6 Jackson
MGI accession ID: MGI:1856410
Generation method: Spontaneous
Synonyms: ru^6J
Marker symbol: Hps6
Marker name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Marker synonyms: 5330434M19Rik; BLOC-2; BLOC2S3; Hermansky-Pudlak syndrome 6; Hsp6; ru; ruby eye
Chromosome: 19
Strain of origin: C3H/HeJ
Molecular note: An intracisternal A particle (IAP) approximately 5.3 kb in length was identified at codon 108. Northern blot analysis indicated highly reduced expression in kidney tissue.
General note: ru^6J, ruby-eye 6J, recessive. Arising in the C3H/HeJ strain, this mutation was proven to be an Hps6 remutation by complementation test. DNA and embryos will be preserved (J:29157).