Strain Name: |
B6.Cg-Hps6ru/JLlp |
|---|---|
Stock Number: |
006929 |
Availability: | Research Strain |
General Terms and Conditions |
| Genes & Alleles | Hps6; Hps6ru; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Congenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Type JAX® GEMM® Strain - Spontaneous Mutation Mating System Backcross-Intercross (Female x Male) Species laboratory mouse Generation >N44+F5 (03-DEC-07)
Gene & Allele Details
| Allele Symbol | Hps6ru | ||
|---|---|---|---|
| Allele Name | ruby-eye | ||
| Common Name(s) | ru; | ||
| Strain of Origin | STOCK Si | ||
| Gene Symbol and Name | Hps6, Hermansky-Pudlak syndrome 6 | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 5330434M19Rik; FLJ22501; Hsp6; MGC20522; MGC93064; RIKEN cDNA 5330434M19 gene; RP11-302K17.1; ru; ruby eye; ruby-eye; | ||
| General Note | The ruby-eye mutation was found by Dunn (J:13122) in a silver piebald stock of Danforth. Homozygotes at birth have unpigmented eyes that later darken to a ruby color. The black pigment of the coat is diluted to a dark slate color, and the yellow pigment is diluted slightly. Ruby-eye in homozygous condition greatly reduces the number of melanocytes in the retina, ear skin, Harderian gland, nictitans (J:12970), and retinal pigment epithelium (J:6064). It has the same effect on shape and color of pigment granules as brown (Tyrpb), i.e., it makes the granules spheroidal rather than ovoid as in wild type, and it changes the color of the granules to dark brown (J:12970). The internal structure of the pigment granules is normal (J:5346, J:5001). This mutation has several effects in common with other mutations that reduce pigmentation (see Hps1). The ruby-eye mutation causes a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus (J:6064). The kidneyconcentration of lysosomal enzymes is elevated, probably because of a low rate of excretion into the urine. Lysosomal morphology is normal (J:6422). Ruby-eye mice have a platelet storage pool deficiency characterized by prolonged bleeding time, normal platelet number, and low platelet dense granule number and dense granule serotonin content (J:7327). A platelet function component related to atherosclerosis is blocked in homozygous ruby-eye mice though not in homozygous maroon mice (Hps5ru2-mr,J:29748). The Wdt2 gene located on Chr 1, a cell autonomous suppressor of pigment dilution gene effects (J:20796), suppresses the eye color effects of mutations at Hps6 and Hps5. Coat color dilution, which Wdt2 suppresses in Myo5a, Mlph, and Rab27a dilution genotypes, is not affected in mutant Hps6 or Hps5 homozygotes, or in a number of other dilution genotypes (J:29467). | ||
| Molecular Note | Sequence analysis identified an in frame deletion of codons 187, 188, and 189 encoding histidine, cysteine, and proline, respectively. [MGI Ref ID J:81444] | ||
Related Strains
Strains carrying Hps6ru allele
000103 B6.Cg-Hps6ru/J 000278 B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J 000259 JE/LeJ View Strains carrying Hps6ru (3 strains)
002424 B6 x C3H/HeJ-Hps6ru-6J/J 005559 B6(129S4)-Hps6ru-7J/J
Research Applications
This mouse can be used to support research in many areas including:Hps6ru related
Dermatology Research
Color and White Spotting Defects
Hematological Research
Platelet Defects (platelet storage pool deficiency)
Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)
Mouse/Human Gene Homologs
Hermansky-Pudlak syndrome
References
Additional ReferencesPrice and Supply Information
| Strain Name: | B6.Cg-Hps6ru/JLlp |
| Stock Number: | 006929 |
Price Details
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Supply Details
| Standard Supply | Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain. |
|---|---|
| Licensing | See General Terms and Conditions below |
General Terms and Conditions
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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