Strain Detail Sheet

Strain Name    :

C57BL/6J-Hps5ru2/Mmmh

Stock Number :

000152-MU

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Allele Symbol: Hps5ru2
Name: ruby-eye 2
Chromosome: 7; 25 cM
Alteration at locus: Spontaneous Mutation
Gene Symbol: Hps5
Name: Hermansky-Pudlak syndrome 5 homolog (human)
Chromosome: 7
Alteration at locus: Spontaneous Mutation

Genetic Alterations:
1 kb (H2A histone) insertion in the Hps5 gene. The insertion is in exon 18 immediately preceeding codon 868.

Genotype Determination:

ES Cell Line: Not Applicable

Strain Description [Including phenotype, strain background, strain development and suggested control mice]

Phenotype

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).


Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
      assigned by genotype
Hps5ru2/Hps5ru2
        C57BL
  • pigmentation phenotype
    • diluted coat color (MGI Ref ID J:20282)
      • described as similar to the ruby-eye (ru) mutation
  • integument phenotype
    • diluted coat color (MGI Ref ID J:20282)
      • described as similar to the ruby-eye (ru) mutation
Hps5ru2/Hps5ru2
        involves: C57BL
  • pigmentation phenotype
    • abnormal eye pigmentation (MGI Ref ID J:81444)
      • electron microscopy shows that there are fewer melanocytes in the retinal pigment epithelium and choroid, the remaining melanocytes in the retinal pigment epithelium are often disorganized and those in the choroid often have ragged outlines instead of the normal smooth exterior membranes and are often clumped within large multimelanosomal bodies
      • abnormal choroid pigmentation (MGI Ref ID J:81444)
      • abnormal pigment epithelium of the eye (MGI Ref ID J:81444)
  • vision/eye phenotype
    • abnormal eye pigmentation (MGI Ref ID J:81444)
      • electron microscopy shows that there are fewer melanocytes in the retinal pigment epithelium and choroid, the remaining melanocytes in the retinal pigment epithelium are often disorganized and those in the choroid often have ragged outlines instead of the normal smooth exterior membranes and are often clumped within large multimelanosomal bodies
      • abnormal choroid pigmentation (MGI Ref ID J:81444)
      • abnormal pigment epithelium of the eye (MGI Ref ID J:81444)

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:

  • C57BL/6J

Research Applications

  • Developmental Biology
  • Hermansky Pudlak Syndrome (HPS)
  • Organelle Structure and Function
  • Pigmentation
  • Oculocutaneous albinism
  • Prolonged Bleeding
  • Pulmonary Fibrosis
  • Platelet Dense Granules
  • Lung Development

Strain Origin

Donor: Lynn Lamoreux, Ph.D., Texas A & M University

Primary Reference:

  • Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003 Feb;33(2):145-53. Epub 2003 Jan 27. (Medline PMID: 12548288)
  • Gautam R, Chintala S, Li W, Zhang Q, Tan J, Novak EK, Di Pietro SM, Dell'Angelica EC, Swank RT. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). J Biol Chem. 2004 Mar 26;279(13):12935-42. Epub 2004 Jan 12. (Medline PMID: 14718540)
  • Nguyen T, Novak EK, Kermani M, Fluhr J, Peters LL, Swank RT, Wei ML. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol. 2002 Nov;119(5):1156-64. PMID: 12445206 (Medline PMID: 12445206)

Colony and Husbandry Information

Special Considerations

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.

Health Status Report

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.

Appearance

Coat color: Homozygous are gray; Wildtype and Heterozygous are black

Other:

Breeding

MMRRC Breeding System: Sib Mating

Breeding Scheme(s):

  • Homozygous female x Homozygous male
  • Homozygous female x Heterozygous/Wildtype male
  • Heterozygous/Wildtype female x Homozygous male

Generation: N10+F5+ As of: 4/20/04

Overall Breeding Performance: Good

Reproductive Statistics

Viability and Fertility:FemaleMale
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

Order Request Information

Availability Level

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Conditions of Distribution [Including applicable technology transfer agreements]

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

Fees

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # - Description Distribution
Fee/unit (US $)
Units Notes
000152-MU-RESUSLitter recovered from cryo-archive
$2,022.00 / $4,109.00
Non-Profit / For-Profit
Litter Recovered litter1; additional fees for any special requests.
000152-MU-SPERMCryo-preserved spermatozoa
$437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity.2
000152-MU-EMBRYOCryo-preserved embryos
$1,038.00 / $2,621.00
Non-Profit / For-Profit
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 above). 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.



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.



The MMRRC is a collaborative effort, funded by grants from DPCPSI of the NIH.

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