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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
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Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Former Names Jagged Tail and Buff (Changed: 15-DEC-04 ) Type Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F42 Important Note
This strain is homozygous for nonagouti and heterozygous for Vps33abf and jg maintained in replusion..Description
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, Vps33abf 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.)Mice homozygous for jg have shortened tails with anormal tapering tip. There is variation in expressivity. The tail is often kinked and other parts of the spine can also be affected. Testes are much smaller than normal and homozygous males are likely sterile. Ovaries are slightly smaller than normal and litter sizes from homozygous females are smaller than normal. Viability to wean age is reduced in homozygotes impacting males more than females. (Green, 1964.)
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Vps33abf allele
000520 C57BL/6J-Vps33abf/J 000072 JGBF/LeTyJ View Strains carrying Vps33abf (2 strains)
000072 JGBF/LeTyJ
Phenotype
Phenotype Information
Hermansky-Pudlak Syndrome; HPS - Models with phenotypic similarity to human disease where etiologies are distinct.2
2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Vps33abf/Vps33abf
C57BL/6J
- pigmentation phenotype
- abnormal eye pigmentation (MGI Ref ID J:81830)
- abnormal choroid pigmentation (MGI Ref ID J:88018)
- melanosomes are reduced in size and number
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:88018)
- melanosomes are reduced in size and number
- abnormal melanosome morphology (MGI Ref ID J:81830)
- melanosomes are reduced in size and number in the eyes
- diluted coat color (MGI Ref ID J:13418)
- nonagouti mice are khaki colored
- eye color does not seem to be overtly affected
- hypopigmentation (MGI Ref ID J:81830)
- renal/urinary system phenotype
- abnormal kidney physiology (MGI Ref ID J:5799)
- activity levels of beta-galactosidase, beta-glucuronidase and N-acetyl-beta-hexoseaminidase are higher than in heterozygous controls
- skin/coat/nails phenotype
- diluted coat color (MGI Ref ID J:13418)
- nonagouti mice are khaki colored
- eye color does not seem to be overtly affected
- homeostasis/metabolism phenotype
- abnormal blood coagulation (MGI Ref ID J:88018)
- average bleeding time is 6.8 minutes
- abnormal platelet physiology (MGI Ref ID J:88018)
- decreased platelet aggregation (MGI Ref ID J:88018)
- there is reduced collagen-mediated platelet aggregation
- increased bleeding time (MGI Ref ID J:7327)
- bleed time averages 6.8 minutes after tail nick, compared with 3.8 minutes in C57BL/6J controls
- vision/eye phenotype
- abnormal eye pigmentation (MGI Ref ID J:81830)
- abnormal choroid pigmentation (MGI Ref ID J:88018)
- melanosomes are reduced in size and number
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:88018)
- melanosomes are reduced in size and number
- hematopoietic system phenotype
- abnormal platelet physiology (MGI Ref ID J:88018)
- decreased platelet aggregation (MGI Ref ID J:88018)
- there is reduced collagen-mediated platelet aggregation
Vps33abf/Vps33abf
C57BL/6J-Vps33abf/J
- pigmentation phenotype
- abnormal iris pigmentation (MGI Ref ID J:141035)
- iris pigment exhibits mild transilluminations increasing peripherally
- vision/eye phenotype
- abnormal iris pigmentation (MGI Ref ID J:141035)
- iris pigment exhibits mild transilluminations increasing peripherally
jg/jg
C3H/HeJ-jg
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:13421)
- there is a deficiency of homozygotes, particularly males
- limbs/digits/tail phenotype
- abnormal skeleton extremities morphology (MGI Ref ID J:13421)
- abnormal caudal vertebrae morphology (MGI Ref ID J:13421)
- decreased caudal vertebrae number (MGI Ref ID J:13421)
- the tail is tapered normally but shortened
- kinked tail (MGI Ref ID J:13421)
- reproductive system phenotype
- abnormal female reproductive system morphology (MGI Ref ID J:13421)
- abnormal ovary size (MGI Ref ID J:13421)
- slightly smaller than normal for strain
- small ovary (MGI Ref ID J:13421)
- abnormal fertility/fecundity (MGI Ref ID J:13421)
- females have fewer litters than normal for the strain
- abnormal litter size (MGI Ref ID J:13421)
- litters are small
- decreased litter size (MGI Ref ID J:13421)
- male infertility (MGI Ref ID J:13421)
- reduced fertility (MGI Ref ID J:13421)
- reduced female fertility (MGI Ref ID J:13421)
- abnormal male reproductive system physiology (MGI Ref ID J:13421)
- male infertility (MGI Ref ID J:13421)
- abnormal testis morphology (MGI Ref ID J:13421)
- abnormal testis size (MGI Ref ID J:13421)
- significantly smaller than normal for strain
- small testis (MGI Ref ID J:13421)
- skeleton phenotype
- abnormal skeleton extremities morphology (MGI Ref ID J:13421)
- abnormal caudal vertebrae morphology (MGI Ref ID J:13421)
- decreased caudal vertebrae number (MGI Ref ID J:13421)
- the tail is tapered normally but shortened
- abnormal vertebrae development (MGI Ref ID J:13421)
- found in some but not all mutants
- endocrine/exocrine gland phenotype
- abnormal ovary size (MGI Ref ID J:13421)
- slightly smaller than normal for strain
- small ovary (MGI Ref ID J:13421)
- abnormal testis morphology (MGI Ref ID J:13421)
This mouse can be used to support research in many areas including:Vps33abf related
jg relatedDermatology Research
Color and White Spotting Defects
Developmental Biology Research
Skeletal Defects
Reproductive Biology Research
Developmental Defects Affecting Gonads
Fertility Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Vps33abf | ||
|---|---|---|---|
| Allele Name | buff | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | bf; | ||
| Strain of Origin | C57BL/6J | ||
| Gene Symbol and Name | Vps33a, vacuolar protein sorting 33A (yeast) | ||
| Chromosome | 5 | ||
| Gene Common Name(s) | 3830421M04Rik; AI503300; AW048546; AW554476; FLJ22395; FLJ23187; RIKEN cDNA 3830421M04 gene; bf; buff; expressed sequence AI503300; expressed sequence AW048546; expressed sequence AW554476; r-Vps33a; | ||
| Molecular Note | This allele comprises a T to G transversion that causes a missense substitution of glutamic acid for aspartic acid at codon 251. [MGI Ref ID J:81830] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Molecular Note | Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats. The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. [MGI Ref ID J:16984] [MGI Ref ID J:24934] | ||
| Allele Symbol | jg | ||
| Allele Name | jagged tail | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | C3H/HeJ | ||
| Gene Symbol and Name | jg, jagged tail | ||
| Chromosome | 5 | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
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Schlagel CJ; Ahmed A. 1982. Evidence for genetic control of microwave-induced augmentation of complement receptor-bearing B lymphocytes. J Immunol 129(4):1530-3. [PubMed: 6980940] [MGI Ref ID J:6835]
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):1146-50. [PubMed: 12538872] [MGI Ref ID J:81830]
Vps33abf relateda relatedAnderson MG; Hawes NL; Trantow CM; Chang B; John SW. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21(5):565-78. [PubMed: 18715234] [MGI Ref ID J:141035]
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Dickie MM. 1964. Buff Mouse News Lett 30:30. [MGI Ref ID J:13418]
Hakansson EM; Lundin LG. 1977. Effect of a coat color locus on kidney lysosomal glycosidases in the house mouse. Biochem Genet 15(1-2):75-85. [PubMed: 849254] [MGI Ref ID J:5799]
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Tanaka S; Nishimura M; Matsuzawa A. 1994. Genetic association between agouti locus and adrenal X zone morphology in SM/J mice. Acta Anat (Basel) 149(3):170-3. [PubMed: 7976166] [MGI Ref ID J:19308]
Tsuruta Y; Yoshimatsu H; Hidaka S; Kondou S; Okamoto K; Sakata T. 2002. Hyperleptinemia in A(y)/a mice upregulates arcuate cocaine- and amphetamine-regulated transcript expression. Am J Physiol Endocrinol Metab 282(4):E967-73. [PubMed: 11882520] [MGI Ref ID J:75872]
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Health & husbandry
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Health & Colony Maintenance Information
Colony Maintenance
Breeding & Husbandry Homozygous jg/jg usually dies at birth
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Important Note | |
| This strain is homozygous for nonagouti and heterozygous for Vps33abf and jg maintained in replusion.. | |
Control Information
| Control | ||
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| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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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.
See Terms of Use tab for General Terms and Conditions
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.Ordering and Purchasing Information
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JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
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The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.