Allele Symbol: Hps5ru2
Name: ruby-eye 2
Alteration at locus: Spontaneous Mutation
Gene Symbol: Hps5
Name: Hermansky-Pudlak syndrome 5 homolog (human)
Alteration at locus: Spontaneous Mutation
ES Cell Line: Not applicable
In addition to hypopigmentation, lysosomes and platelets are functionally abnormal. Eye color for homozygous mice is red, then darkens to ruby; Wildtype and Heterozygous eye color is black
In mice, at least 16 HPS genes have been identified. They are involved with maturation of lysosomal-related organelles, including pigment cells, and most are components of specific protein complexes, BLOC-1 (pallid, cappuccino, muted loci), BLOC-2 (ruby eye and ruby eye-2 and cocoa), BLOC-3 and BLOC-4 (HPS1/pale ear and HPS4/light ear). HPS genes function in the biogenesis of lysosomes and lysosome-related cell-specific organelles such as melanosomes (found in pigment cells in skin, eye, ear, and meninges), platelet dense granules, and lung lamellar bodies. The major pathologic conditions associated with HPS are oculocutaneous albinism, prolonged bleeding, cellular accumulation of ceroid-like pigment, and pulmonary fibrosis.
Ruby2 is a member of the BLOC-2 complex and is the result of a spontaneous mutant that arose in a substrain of C57BL. An insertion of a 1.0 kb fragment of H2f2a that contains an 8 nt duplication at the 3' end was identified immediately upstream of codon 868 (exon 18).
Strain of Origin: C57BL/6
Strain genetic background: C57BL/6J
Strain Development: This mutation arose spontaneously in a C57BL/6 mouse. This mutation has been bred to homozygosity.
Suggested Control Mice:
Donor: Lynn Lamoreux, Ph.D., Texas A & M University
Feed 9% fat breeder diet. Homozygous mice are gray with red eyes. Wildtype and Heterozygous mice are black and cannot be distinguished from each other on the basis of coat color. Mate as trios for greater probability of survival of young; may do better on second litter. If in danger of loss, mate to B6 and use the black heterozygous females with homozygous mutant males.
Coat color: Homozygous are gray; Wildtype and Heterozygous are black
MMRRC Breeding System: Sib Mating
Generation: N10+F5+ As of: 4/20/04
Overall Breeding Performance: Good
|Viability and Fertility:||Female||Male||Comments|
|Homozygotes are viable:||Yes||Yes|
|Homozygotes are fertile:||Yes||Yes|
|Heterozygotes are fertile:||Yes||Yes|
|Age Reproductive Decline:||unknown||unknown|
Average litter size: 7
Recommended wean age: 3-4 weeks
Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.
Fee/unit (US $)
|Litter||Recovered litter1; additional fees for any special requests.|
|Aliquot||Approximate quantity3: 20-40 embryos / aliquot|
1 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.
2 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.
3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.
To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.