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| These OVE427 mice harbor a knockout of the Ap2b1 gene caused by random insertion of two head-to-tail copies of the tyrosinase minigene transgene. Homozygous mice exhibit complete clefting of the secondary palate (autosomal recessive nonsyndromic cleft palate) and die shortly after birth. | |||||||||||||||||||
- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
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 Coisogenic; Mutant Strain; Transgenic; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N?pN1
Generation DefinitionsDonating Investigator Eric T Everett, University of North Carolina at Chapel Hill Description
These OVE427 mice harbor a mutation created by random insertion of two head-to-tail copies of the tyrosinase minigene (TYBS) transgene into the Ap2b1 (adaptor protein complex 2 β1 subunit) gene on chromosome 11. This results in a knockout allele; no β2-adaptin mRNA or protein is expressed from the mutant allele. Homozygous OVE427 mice exhibit complete clefting of the secondary palate (autosomal recessive nonsyndromic cleft palate) and die shortly after birth. Coronal cross-sections of the secondary palate of embryonic day (E)17 and E18 homozygous embryos display evidence of palatal shelf elevation and the apparent failure of the shelves to fuse. Ap2β1-deficiency also leads to reduced levels of another adaptor protein-2 (AP-2) complex protein, α-adaptin (Ap2a1). No craniofacial dysmorphology or any anomalies involving the limbs or developing skeleton are reported for OVE427 homozygotes. Other than cleft palate, additional histological examination through serial cross-sections of entire embryos do not reveal differences in major internal organs (heart, brain, lungs, kidneys, gastrointestinal tract) between wildtype and homozygous littermates.Adaptor protein (AP) complexes are composed of subunits (adaptins) that are involved in the formation of intracellular transport vesicles and in the selection of cargo for incorporation into vesicles. The Ap2β1 (Ap2b1) gene encodes the β2-adaptin protein that, together with the α-adaptin protein (Ap2a1), the μ2 medium chain adaptin (Ap2m1), and the σ2 small chain adaptin (Ap2s1), assemble into the heterotetrameric adaptor protein-2 (AP-2) complex involved in clathrin-dependent endocytosis of receptors from the plasma membrane. These OVE427 mice are useful tools for studying the genetic components of cleft palate; including AP-2 complex assembly/function and defective endocytosis of one or more receptors or other cell surface proteins involved in palatogenesis.
Development
The 4.1 kb tyrosinase minigene (TYBS) transgene was designed by Dr. Paul A. Overbeek (Baylor College of Medicine) with the 2.1 kb BALB/c mouse Tyr promoter region and 2.0 kb Tyr cDNA sequence (including the stop codon polyA sequences). This transgene was injected into one-cell stage FVB/NJ mouse embryos. Expression of the tyrosinase minigene results in melanin synthesis (rescue of the FVB/N albino phenotype); so founder mice (F0) were identified by coat color and eye pigmentation. F0 mice were assigned an OVE number and then bred with FVB/NJ mice. Heterozygous mice of line OVE427 (OVE#427) were viable and fertile with sand/tan coat color and dark pink/rust colored eyes. OVE427 mice were then sent to Dr. Eric T. Everett (University of North Carolina at Chapel Hill) for characterization and further strain maintenance. Homozygous OVE427 mice exhibiting perinatal lethality were identified and shown to have two head-to-tail copies of the TYBS transgene within the Ap2β1 (adaptor protein complex 2 β1 subunit) gene on chromosome 11; with both transgenes in reverse-orientation relative to the disrupted mouse gene. Specifically, the flanking sequences correspond to the intron between exons 1-2, and the intron between exons 14-15 of Ap2β1. Heterozygous OVE427 mice were bred with wildtype mice (white coat color and pink eyes) for more than 20 generations prior to sending to The Jackson Laboratory Repository Facebase collection. Upon arrival, these mice were bred to FVB/NJ inbred mice (Stock No. 001800) for at least one generation to establish the live colony.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 001800 FVB/NJ | ||
| Considerations for Choosing Controls | ||
Related Strains
Facebase: models
View Facebase: models (58 strains)
Phenotype
Phenotype Information
assigned by genotype
Ap2b1Tg(Tyr)427Ove/Ap2b1Tg(Tyr)427Ove
FVB/NJ-Ap2b1Tg(Tyr)427Ove
- craniofacial phenotype
- cleft palate (MGI Ref ID J:177760)
- abnormal palatal shelf fusion at midline
- despite evidence of palatal shelf elevation, shelves fail to fuse at E17 and E18 (MGI Ref ID J:177760)
- digestive/alimentary phenotype
- cleft palate (MGI Ref ID J:177760)
- abnormal palatal shelf fusion at midline
- despite evidence of palatal shelf elevation, shelves fail to fuse at E17 and E18 (MGI Ref ID J:177760)
This mouse can be used to support research in many areas including:
Cell Biology Research
Channel and Transporter Defects
Developmental Biology Research
Craniofacial and Palate Defects
congenital cleft palate
Perinatal Lethality
Homozygous
Neurobiology Research
Channel and Transporter Defects
Receptor Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Ap2b1Tg(Tyr)427Ove | ||
|---|---|---|---|
| Allele Name | transgene insertion 427, Paul Overbeek | ||
| Allele Type | Transgenic (random, gene disruption) | ||
| Common Name(s) | OVE427; | ||
| Mutation Made By | Paul Overbeek, Baylor College of Medicine | ||
| Strain of Origin | FVB/NJ | ||
| Gene Symbol and Name | Ap2b1, adaptor-related protein complex 2, beta 1 subunit | ||
| Chromosome | 11 | ||
| Gene Common Name(s) | 1300012O03Rik; ADTB2; AI788979; AP105B; AP2-BETA; CLAPB1; RIKEN cDNA 1300012O03 gene; expressed sequence AI788979; | ||
| Molecular Note | The 4.1 kb tyrosinase minigene (TYBS) transgene with the 2.1 kb BALB/c mouse Tyr promoter region and 2.0 kb Tyr cDNA sequence (including the stop codon polyA sequences) inserted into chromosome 11 in reverse-orientation with the left arm mapping to intron 1 and the right arm mapping to intron 14. The absence of protein expression was confirmed by western blot analysis on mouse embryonic fibroblasts, brain, and liver extracts. [MGI Ref ID J:177760] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Ap2b1Tg(Tyr)427Etev, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Li W; Puertollano R; Bonifacino JS; Overbeek PA; Everett ET. 2010. EDITOR'S CHOICE: Disruption of the Murine Ap2beta1 Gene Causes Nonsyndromic Cleft Palate. Cleft Palate Craniofac J 47(6):566-73. [PubMed: 20500056] [MGI Ref ID J:177760]
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
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.Colony Maintenance
Breeding & Husbandry Homozygous OVE427 mice die shortly after birth. When maintaining a live colony, heterozygous mice may be bred with wildtype mice from the colony or bred with FVB/NJ inbred mice (Stock No. 001800). Heterozygous OVE427 mice have sand/tan coat color and dark pink/rust colored eyes. Wildtype littermates have white coat color with pink eyes.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2250.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of 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 about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2925.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of 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 about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 001800 FVB/NJ | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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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 Information
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