These mice carry a spontaneous mutation at the Vps33a locus characterized by a khaki colored coat and a platelet-storage pool defect.
Read More +Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous | Vps33a | VPS33A CORVET/HOPS core subunit |
Mice homozygous for the recessive buff (Vps33abf) mutation on a non-agouti (a/a) background have a lightened coat color that has been described as khaki. On an agouti background, Vps33bf homozygotes have dark ears, opaque eyes, and the belly is lighter in color than is the rest of the coat. Although no change in eye color is outwardly evident, electron microscopy shows fewer and smaller melanosomes than normal in the retinal pigment epithelium and choroid. These mutants have a platelet-storage pool defect evidenced by an increased bleeding time of 9.7 minutes on average, a reduction in the number of platelet dense granules, and slightly decreased collagen-mediated platelet aggregation, secretion of dense-granule ATP and secretion of seratonin. Hakansson and Lundin found increased activity of the lysosomal glycosidases beta- galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase in kidney cell lysates. Suzuki et al. found no significant difference in kidney beta- galactosidase and beta-glucuronidase activity, no significant decrease in beta-glucuronidase secretion into the urine, but a 53% reduction in the secretion of beta-galactosidase into the urine. (Dickie, 1964; Davisson, 1977; Hakansson and Lundin, 1977; Suzuki et al., 2003.)
The recessive buff (Vps33abf) mutation arose spontaneously in 1962 on the C57BL/6J background at The Jackson Laboratory. It was maintained primarily by sibling breeding heterozygote x homozygote and in later years the strain was also intermittently backcrossed homozygote to C57BL/6J. In 1975 this strain was at generation N7F24 then N8, in 1977 it reached generation N9F3, in 1979 N9F7 then N10, and in 1981 heterozygous embryos were frozen from C57BL/6J females bred to homozygous males at N10F4 or N10F5.
Allele Name | buff |
---|---|
Allele Type | Spontaneous |
Allele Synonym(s) | bf |
Gene Symbol and Name | Vps33a, VPS33A CORVET/HOPS core subunit |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 5 |
Molecular Note | This allele comprises a T-to-G transversion that causes a missense substitution of aspartic acid to glutamic acid at codon 251 (p.D251E). |
When using the buff mouse strain in a publication, please cite the originating article(s) and include JAX stock #000520 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Vps33a<bf> |
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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.
What information were you hoping to find through your search?
How easy was it to find what you were looking for?
We may wish to follow up with you. Enter your email if you are happy for us to connect and reachout to you with more questions.
Please Enter a Valid Email Address
Thank you for sharing your feedback! We are working on improving the JAX Mice search. Come back soon for exciting changes.