Strain Detail Sheet

Strain Name:
C57BL/6J-Hps3coa-3Btlr/Mmmh
Stock Number:
038245--TBD-
Citation ID:
RRID:MMRRC_038245--TBD-
Other Names:
gandalf
Major Collection:
Beutler Mutagenetix

Strain Information

Gene Details

Hps3coa-3Btlr
Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 3 Bruce Beutler
Synonyms: gandalf
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 3
Alteration at locus: Chemically Induced
Hps3
Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Synonyms: Hermansky-Pudlak syndrome 3
Type: Gene
Species: Mouse
Chromosome: 3
Alteration at locus: Chemically Induced
NCBI: 12807
Homologene: 13019
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Genetic Alterations
ENU-induced T to A transversion at base pair 20012796 (v38) on Chromosome 3 in the GenBank genomic region NC_000069 encoding the Hps3 gene. The mutation corresponds to residue 2046 in the mRNA sequence NM_080634 within exon 11 of 17 total exons. The mutation results in a cysteine (C) to premature stop codon substitution at residue 667 of the HPS3 protein.

Strain Description

Phenotype

Homozygous: Mice have a gray coat.

Heterozygous: No abnormal phenotype detected.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
Strain Development
Original mutant was a C57BL/6J G3 ENU-induced mutant; all subsequent crosses to maintain strain were on C57BL/6J background only.
Suggested Control Mice
Wild-type littermates or C57BL/6J mice

MMRRC Genetic QC

MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact . Older strains may not have this information.

Research Applications

  • Cell Biology
  • Models of Human Disease
    • Hermansky-Pudlak syndrome (HPS; OMIM #203300)

Strain Origin

Primary Reference

Purrington T, Murray AR, Beutler B. Record for gandalf. MUTAGENETIX, B. Beutler and colleagues, Center for the Genetics of Host Defense, UT Southwestern, Dallas, TX.

Colony and Husbandry Information

Health Status Report

For more information about this colony's health status contact

Appearance

Coat Color
Black

Reproductive Statistics

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

Order Request Information

Availability Level

The availability level for this product has not been determined.

Conditions of Distribution

The donor or their institution limits the distribution to non-profit institutions only.

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

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