Strain Data Sheet

RBRC04866

Strain Information

Image
BRC No.RBRC04866
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameC57BL/10JMsHir-Hps5<ru2-d>/Hir
Former Common nameB10-ru2<d>
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentDeveloped by Tomohisa Hirobe, National Institute of Radiological Sciences in 2006.
Strain descriptionThe ruby-eye 2d mutation (Hps5<ru2-d>) arose in 2006 in a C57BL/10JMsHir strain. Brown coat color with ruby eyes (a/a B/B C/C D/D P/P E/E ru2<d>/ru2<d>). Differentiation of melanocytes are greatly inhibited.
Colony maintenanceHomozygote x Homozygote
References
Genetic and epigenetic control of the proliferation and differentiation of mouse epidermal melanocytes in culture.
Hirobe T, Abe H
Pigment Cell Res., 12, 147-163 (1992). 10385911

Control of melanocyte proliferation and differentiation in the mouse epidermis.
Hirobe T
Pigment Cell Res., 5, 1-11 (1992). 1631016

Structure and function of melanocytes: microscopic morphology and cell biology of mouse melanocytes in the epidermis and hair follicle.
Hirobe T
Histol Histopathol., 10, 223-237 (1995). 7756740

Role of keratinocyte-derived factors involved in regulating the proliferation and differentiation of mammalian epidermal melanocytes.
Hirobe T
Pigment Cell Res., 18, 2-12 (2005). 15649147

A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine.
Hirobe T, Yoshihara C, Takeuchi S, Wakamatsu K, Ito S, Abe H, Kawa Y, Soma Y
Zoolog Sci., 28(11):790-801 (2011). 22035301

How are proliferation and differentiation of melanocytes regulated?
Hirobe T
Pigment Cell Melanoma Res., 24(3):462-478 (2011). 21375698

A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes.
Hirobe T, Wakamatsu K, Ito S
Zoolog Sci., 29:652-661 (2012). 23030338

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Hps5
MGI:2180307
HPS5, biogenesis of lysosomal organelles complex 2 subunit 27Hps5<ru2-d>
MGI:1856144
ruby-eye 2d
  • Hermansky-Pudlak syndrome 5(DisGeNET, MedGEN)
  • Phenotype

    Phenotype annotation from literatures by Mammalian phenotype ontology
  • hypopigmentation (MP:0005408)
  • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research application
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Pigmnet Cell Melanoma Res., 24(3):462-478 (2011). In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested.
    DepositorTomohisa Hirobe (National Institute of Radiological Sciences (NIRS))
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    Cryopreserved embryos (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    BRC mice in Publications

    No Data