C57BL/6J-Hps5^ru2-J/J

Stock number: 000542
Product name: ruby-eye 2 Jackson
Research areas: Dermatology Research, Hematological Research, Internal/Organ Research

Description

These mice carry a spontaneous mutation at the Hps5 locus characterized by unpigmented eyes at birth that later develop into a dark, ruby color. Black and yellow pigments of the coat are diluted. The mice show high concentrations of kidney lysosomal enzymes.

Detailed description

Ruby-eye-2-J mice have abnormally high concentrations of kidney lysosomal enzymes. Concentrations of kidney non-lysosomal enzymes and liver and serum lysosomal enzymes are normal. There is a decreased rate of secretion of lysosomal enzymes from kidney into urine. These mice should serve as useful models for the study of the biogenesis, structure, and processing of these and other subcellular organelles.

Development

The ruby-eye 2 Jackson mutation arose spontaneously in C57BL/6J when that strain was at generation F98 and was maintained by sibling mating. In 1981 homozygous males at F34 were bred with C57BL/6J females to generate embryos for cryopreservation.

Allele

Symbol: Hps5^ru2-J
Name: ruby-eye 2 Jackson
MGI accession ID: MGI:1856147
Generation method: Spontaneous
Marker symbol: Hps5
Marker name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Chromosome: 7
Strain of origin: C57BL/6J
Molecular note: This spontaneous mutation was shown to be an allele of Hps^ru-2 by complementation testing, and thus an allele of Hps5^ru2. Subsequent sequence analysis identified the replacement of G with TT in codon 757, putatively resulting in a frameshift mutation that precludes the translation of 311 carboxy terminal amino acids. Northern blot analysis indicated that the mutation did not affect the expression pattern of the gene.