Description

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation N5+1F1pN1   Donating Investigator Margit Burmeister,   University of Michigan

Description
Ap3b1 encodes the beta-3A subunit of the adaptor protein complex 3 (AP-3). Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No Ap3b1 mRNA is detected by Northern blot analysis of spleen and kidney tissue, and beta-3A immunoreactivity is absent in monocytes from homozygous mice. In brain tissue from homozygous mutants, expression levels of the AP-3 beta-3B (beta-NAP), mu-3 and sigma-3 subunit proteins are normal, but expression of the delta-3 subunit protein is reduced. In kidney, no sigma-3 protein is detected, and mu-3 and delta-3 subunit proteins levels are greatly reduced.

Homozygotes have a diluted coat color (light gray), which is lighter than the coats of homozygotes carrying the allelic pearl (Ap3b1^pe) spontaneous mutation. Cultured melanocytes from homozygous mutant mice have very few pigment granules. Lysosomal-associated membrane proteins and tyrosinase are mislocalized in cultured fibroblasts and melanocytes. Vesicular zinc in embryonic fibroblasts from homozygotes is either greatly reduced or absent, and histochemically reactive synaptic vesicle zinc and zinc-uptake transmembrane proteins are increased in brain sections. Homozygotes also exhibit prolonged bleeding times. This mutant mouse strain may be useful in studies of intracellular membrane protein trafficking, intracellular organelle formation and Hermansky-Pudlak syndrome.

Development
A targeting vector containing a loxP site flanked neomycin resistance and phosphoglycerate kinase selection cassette and IRES-lacZ was used to disrupt the coding exon. The construct was electroporated into 129-derived R1-45 embryonic stem (ES) cells. Correctly targeted ES cells were co-cultured with C57BL/6 morulae. The resulting male chimeric animals were crossed to C57BL/6 mice. The mice were crossed to transgenic CMV-Cre (on a mixed background) to remove the PGK-neo selection cassette. Mice were then backcrossed to C57BL/6 for 5 generations (while selecting against the Cre-expressing transgene) prior to arrival at The Jackson Laboratory.

Control Information

	Control
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Ap3b1

003599	B10.RIII H2r H2-T18b/(71NS)Sn-Ap3b1pe-11J/J
000102	B6.C3-Ap3b1pe/J
003215	B6Pin.C3-Ap3b1pe/J
000232	C3Fe.C3-Ap3b1pe/J
002531	DBA/1LacJ-Ap3b1pe-7J/J
002510	DBA/2J-Ap3b1pe-8J/J

View Strains carrying other alleles of Ap3b1     (6 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Ap3b1^tm1.1Sms/Ap3b1^tm1.1Sms

        involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• skin/coat/nails phenotype
• diluted coat color (MGI Ref ID J:66256)
  • coat color phenotype is stated to be identical to that have mice homozygous for the allele with the neo cassette
• behavior/neurological phenotype
• *normal* behavior/neurological phenotype (MGI Ref ID J:66256)
  • homozygotes exhibit no neurological or balance abnormalities
• pigmentation phenotype
• diluted coat color (MGI Ref ID J:66256)
  • coat color phenotype is stated to be identical to that have mice homozygous for the allele with the neo cassette

View Research Applications

Research Applications

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

Cell Biology Research
Channel and Transporter Defects
Vesicular Trafficking

Dermatology Research
Skin and Hair Texture Defects

Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)

Mouse/Human Gene Homologs
Hermansky-Pudlak syndrome

Neurobiology Research
Channel and Transporter Defects
Neurotransmitter Receptor and Synaptic Vesicle Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Ap3b1tm1.1Sms
Allele Name		targeted mutation 1.1, Suzanne L Mansour
Allele Type		Targeted (knock-out)
Common Name(s)		Ap3b1L;
Mutation Made By		Suzanne Mansour,   University of Utah
Strain of Origin		(129X1/SvJ x 129S1/Sv)F1-Kitl+
ES Cell Line Name		R1
ES Cell Line Strain		(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Gene Symbol and Name		Ap3b1, adaptor-related protein complex 3, beta 1 subunit
Chromosome		13
Gene Common Name(s)		ADTB3; ADTB3A; AP-3; AU015684; C78395; HPS; HPS2; PE; beta3A; expressed sequence AU015684; expressed sequence C78395; pe; pearl; recombination induced mutation 2; rim2;
Molecular Note		An IRES-lacZ and a floxed PGKneomycin selection cassette was inserted into the coding region of the gene. Subsequent transient transcription of Cre recombinase removed the neomycin selection cassette. Northern blot analysis on RNA derived from spleen and kidney of homozygous mice confirmed that no detectable transcript was expressed from this allele. [MGI Ref ID J:66256]

Genotyping

Genotyping Information

Genotyping Protocols

Ap3b1^tm1.1Sms, STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Yang W; Li C; Ward DM; Kaplan J; Mansour SL. 2000. Defective organellar membrane protein trafficking in Ap3b1-deficient cells. J Cell Sci 113(Pt 22):4077-86. [PubMed: 11058094]  [MGI Ref ID J:66256]

Additional References

Ap3b1^tm1.1Sms related

Seong E; Wainer BH; Hughes ED; Saunders TL; Burmeister M; Faundez V. 2005. Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain. Mol Biol Cell 16(1):128-40. [PubMed: 15537701]  [MGI Ref ID J:94942]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice are bred as homozygotes.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection.

Control Information

	Control
	000664 C57BL/6J
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.

General Terms and Conditions

See Terms of Use

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.

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Ordering and Purchasing Information

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Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Effective September 26, 2007: License Requirements for Strains using Cre-lox Technology only apply in Canada, see Licenses for Strains using Cre-lox Technology.

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

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The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory 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 The Jackson Laboratory, 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 The Jackson Laboratory, 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 services by The Jackson Laboratory.