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

Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype d Generation +N1

Appearance
light brown dilute
Related Genotype: a/a Tyrp1^b/Tyrp1^b Myo5^d/Myo5^d Ap3b1^pe-8J/Ap3b1^pe-8J

brown dilute
Related Genotype: a/a Tyrp1^b/Tyrp1^b Myo5^d/Myo5^d Ap3b1^pe-J/ + or +/+

Description
Appearance: Ap3b1^pe-8J/Ap3b1^pe-8J, lighter brown than normal DBA/2J mice.

Development
The Ap3b1^pe-8J mutation occurred spontaneously in a DBA/2J colony at The Jackson Laboratory in 1992.

Control Information

	Control
	Heterozygote from the colony
	000671 DBA/2J
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
006253	B6.Cg-Ap3b1tm1.1Sms/J
003215	B6Pin.C3-Ap3b1pe/J
000232	C3Fe.C3-Ap3b1pe/J
002531	DBA/1LacJ-Ap3b1pe-7J/J

View Strains carrying other alleles of Ap3b1     (6 strains)

Phenotype

Phenotype Information

View Research Applications

Research Applications

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

Ap3b1^pe-8J related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects (platelet storage pool deficiency)

Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)

Currently there is no phenotype information for this strain.

Genes & Alleles

Gene & Allele Information

Allele Symbol		Ap3b1pe-8J
Allele Name		pearl 8 Jackson
Allele Type		Spontaneous
Strain of Origin		DBA/2J
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		The molecular lesion responsible for the phenotype in pe8J mice consists of a 107-bp deletion in the Ap3b1 gene that alters the reading frame and produces a premature termination site. This results in the addition of 12 novel amino acids followed by a truncation eliminating 233 amino acids from the carboxy terminus. [MGI Ref ID J:52879] [MGI Ref ID J:65643]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Ap3b1^pe-8J related

Feng L; Rigatti BW; Novak EK; Gorin MB; Swank RT. 2000. Genomic structure of the mouse ap3b1 gene in normal and pearl mice Genomics 69(3):370-9. [PubMed: 11056055]  [MGI Ref ID J:65643]

Feng L; Seymour AB; Jiang S; To A; Peden AA; Novak EK; Zhen L ; Rusiniak ME ; Eicher EM ; Robinson MS ; Gorin MB ; Swank RT. 1999. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet 8(2):323-30. [PubMed: 9931340]  [MGI Ref ID J:52879]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

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

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. At least two mice that carry the mutation (if it is a mutant strain) will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotypes and genders are needed. IMPORTANT NOTE: The genotypes of the animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire for possible genotypes for this specific strain. Animals typically ship within 13 to 16 weeks from your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will typically ship within 25 weeks. 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. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote from the colony
	000671 DBA/2J
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.

---

Ordering and Purchasing Information

      Purchasing Information
      JAX^® Mice Orders
      Surgical Services

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

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.

No Liability

In no event shall The Jackson Laboratory, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, products or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

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.