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Gene Information

Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2 3 Bruce Beutler
Synonyms: titan
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Chemically Induced
Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Synonyms: ru-2, ruby eye 2, ru2, Hermansky-Pudlak syndrome 5
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 7
Alteration at locus: Chemically Induced
NCBI: 246694
Homologene: 35333
Genetic Alterations
ENU-induced T to C transition at base pair 46,783,469 (v38) on chromosome 7, or base pair 113,685 in the GenBank genomic region NC_000073 for the Hps5 gene. The mutation is located within the donor splice site of intron 7, two nucleotides from the previous exon. Hps5 contains 23 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility, shown below, is that aberrant splicing may result in skipping of the 213 base pair exon 7 and in-frame splicing from exon 6 to exon 8. This would result in deletion of 70 amino acids in the HPS5 protein; the deletion is not within a defined domain.

Homozygous: Homozygous titan animals displayed hypopigmentation of the fur, pale colored ears, and pink feet and tail.

Heterozygous: Not determined.

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
  • Cell Biology
  • Dermatology
Primary Reference

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

Colony and Husbandry Information

For more information about this colony's health status contact
Coat Color
Viability and Fertility: Female Male Comments
Homozygotes are viable:
Homozygotes are fertile:
Heterozygotes are fertile:
Age Reproductive Decline: Unknown Unknown

Order Request Information

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