Mice homozygous for the recessive buff (Vps33a^bf) mutation on a non-agouti (a/a) background have a lightened coat color that has been described as khaki. On an agouti background, Vps33^bf 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.)

Development

The recessive buff (Vps33a^bf) 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.

Genetics

Vps33a^bf

Allele Symbol: Vps33a^bf

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).

Disease/Phenotype

Disease Terms

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Hermansky-Pudlak syndrome

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Vps33a^bf related

Dermatology Research
- Color and White Spotting Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Vps33a^bf/Vps33a^bf
C57BL/6J-Vps33a

hematopoietic system phenotype

abnormal platelet physiology

decreased platelet aggregation
- there is reduced collagen-mediated platelet aggregation

renal/urinary system phenotype

abnormal kidney physiology
- activity levels of beta-galactosidase, beta-glucuronidase and N-acetyl-beta-hexoseaminidase are higher than in heterozygous controls

vision/eye phenotype

abnormal choroid pigmentation
- melanosomes are reduced in size and number

abnormal eye pigmentation

abnormal retinal pigment epithelium morphology
- melanosomes are reduced in size and number

homeostasis/metabolism phenotype

abnormal blood coagulation
- average bleeding time is 6.8 minutes

abnormal platelet physiology

decreased platelet aggregation
- there is reduced collagen-mediated platelet aggregation

increased bleeding time
- bleed time averages 6.8 minutes after tail nick, compared with 3.8 minutes in C57BL/6J controls

integument phenotype

diluted coat color
- eye color does not seem to be overtly affected
- nonagouti mice are khaki colored

pigmentation phenotype

abnormal choroid pigmentation
- melanosomes are reduced in size and number

abnormal eye pigmentation

abnormal melanosome morphology
- melanosomes are reduced in size and number in the eyes

abnormal retinal pigment epithelium morphology
- melanosomes are reduced in size and number

diluted coat color
- eye color does not seem to be overtly affected
- nonagouti mice are khaki colored

hypopigmentation

small melanosome
- melanosomes are reduced in size in the eyes

Genotype: Vps33a^bf/Vps33a^bf
C57BL/6J-Vps33a/J

pigmentation phenotype

abnormal iris pigmentation
- iris pigment exhibits mild transilluminations increasing peripherally

vision/eye phenotype

abnormal iris pigmentation
- iris pigment exhibits mild transilluminations increasing peripherally

References

Additional References

Hakansson EM; Lundin LG. 1977. Effect of a coat color locus on kidney lysosomal glycosidases in the house mouse. Biochem Genet 15(1-2):75-85PubMed: 849254 MGI: J:5799
Suzuki T; Oiso N; Gautam R; Novak EK; Panthier JJ; Suprabha PG; Vida T; Swank RT; Spritz RA. 2003. The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A 100(3):1146-50PubMed: 12538872 MGI: J:81830

Additional - Vps33a^bf related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- buff
  Related Genotype: a/a Vps33a^bf/Vps33a^bf
Citation
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.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous for Vps33a<bf>

Payment Terms and Conditions

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's Genotype Promise

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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General Terms and Conditions

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Licensing Information

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JAX® Mice, Products & Services Conditions of Use

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Also Known As:buff

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Vps33abf

Allele Symbol: Vps33abf

Disease Terms

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Vps33abf related

Mammalian Phenotype Terms by Genotype

Genotype: Vps33abf/Vps33abfC57BL/6J-Vps33a

hematopoietic system phenotype

renal/urinary system phenotype

vision/eye phenotype

homeostasis/metabolism phenotype

integument phenotype

pigmentation phenotype

Genotype: Vps33abf/Vps33abfC57BL/6J-Vps33a/J

pigmentation phenotype

vision/eye phenotype

References

Additional References

Additional - Vps33abf related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Vps33a^bf

Allele Symbol: Vps33a^bf

Genotype: Vps33a^bf related

Genotype: Vps33a^bf/Vps33a^bf
C57BL/6J-Vps33a

Genotype: Vps33a^bf/Vps33a^bf
C57BL/6J-Vps33a/J

Additional - Vps33a^bf related