B6.D2-Hps5^ru2-hz/J

Stock number: 000541
Product name: haze
Research areas: Dermatology Research, Hematological Research, Internal/Organ Research

Detailed description

These mice carry a spontaneous mutation at the Hps5 locus. Newborn mutant animals have very light colored eyes. In the adult the hair color is brownish and underfur is white.

Development

The haze allele arose spontaneously on the DBA/2J background at the Jackson Laboratory in 1962. It was backcrossed onto C57BL/6J to N14 and then brother x sister mated to F21. It was cryopreserved in 1982 by mating homozygous males to C57BL/6J females.

Allele

Symbol: Hps5^ru2-hz
Name: haze
MGI accession ID: MGI:1856145
Generation method: Spontaneous
Synonyms: hz; ru2^hz; ru-2^hz
Marker symbol: Hps5
Marker name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Marker synonyms: Aa2-028; Ab1-018; AIBP63; BLOC2S2; Hermansky-Pudlak syndrome 5; ru2; ru-2; ruby eye 2
Chromosome: 7
Strain of origin: DBA/2J
Molecular note: This allele was initially shown to be allelic to Hps5^ru2 and Hps5^ru2-mr by complementation testing. The insertion of CCGG in codon 900 was identified by sequence analysis and putatively results in a frameshift mutation that precludes the translation of 118 carboxy terminal amino acids.
General note:

Shown to be an allele of the maroon mutation and later both were shown to be alleles of ru2.