This mutation provides a model for Hermansky-Pudlak syndrome and is part of an allelic series in the Hps1 gene.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Hps1 | HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
Mice homozygous for the pale ear 7 Jackson mutation have diluted pigmentation that makes normally agouti-colored mice appear similar to brown agouti with pale ears and tail. Males and females are fertile although there may be an increase in the number of stillborn or pre-wean deaths.
The pale ear 7 Jackson mutation arose spontaneously on the CAST/EiJ background and was maintained co-isogenic on that background until sperm from homozygous males was cryopreserved. Cryo-recovery is scheduled to use eggs from C3H/HeJ females.
Allele Name | pale ear 7 Jackson |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Hps1, HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
Gene Synonym(s) | |
Strain of Origin | CAST/EiJ |
Chromosome | 19 |
Molecular Note | A spontaneous single nucleotide C-to-A transversion at chromosome 19 position 42,778,139 (GRCm38) causes a premature stop codon from a glutamic acid codon at residue 34 (p.E34*) of the 704 amino acid protein. |
When using the (C3H/HeJ x CAST/EiJ-Hps1ep-7J/GrsrJ)F1 mouse strain in a publication, please cite the originating article(s) and include JAX stock #021491 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for nm4264 |
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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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