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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Mating System +/+ sibling x Heterozygote (Female x Male) Species laboratory mouse Generation ?+N0 (09-JAN-08) Donating Investigator James Lupski, Baylor College of Medicine Description
Mice are albino. Heterozygous mice are viable and fertile and weigh slightly less than wildtype at 0-2 weeks of age. RT-PCR shows a blunted N-terminal product in kidney tissues that does not contain the two nuclear localization signals (NLS) or zinc finger like plant homeo domain (PHD). Heterozygous embryos have differential tissue expression of lacZ during development, faithfully recapitulating the expression pattern of Rai1. Less than 5% of heterozygous mice exhibit polydactyly. While noticeably smaller at 4-7 weeks, heterozygotes are significantly obese by 20-23 weeks. 7-18% of heterozygotes have craniofacial defects (broader and shorter nasal bone and lateral bending of the snout). The vast majority of homozygotes are embryonic lethal, with death occurring after implantation but before 15.5 days post coitum (during gastrulation and organogenesis). All homozygotes surviving to birth exhibit growth retardation and premature death with most dying before wean. Homozygous mice have shorter snouts and extra cartilaginous elements in digit 5 of both forelimbs. Craniofacial abnormalities are more severe in homozygotes than in heterozygotes. In addition, homozygotes have hypoplastic thyroid bones and axial skeleton defects not observed in heterozygotes (thinner and non-articulate 13th rib, axis-atlas fusion, defective closure of the dorsal arches, and transverse foramina of thoracic vertebra). This mouse may be useful in studies of obesity and craniofacial abnormalities, and is a model for Smith-Magenis syndrome (SMS).Development
A targeting vector containing an internal ribosome entry site-linked beta-galactosidase (lacZ) gene followed by a loxP-flanked PGKneo cassette was used to replace a large region of exon 2 (encoding amino acids 537-1790) of the endogenous gene. The construct was electroporated into 129S7/SvEvBrd-derived AB2.2 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6-Tyrc-Brd blastocysts. The resulting chimeric males were bred to C57BL/6-Tyrc-Brd females and maintained on that background for at least 7 generations before arrival at The Jackson Laboratory. Upon arrival, mutant mice were bred once to Stock No. 000058 (C57BL/6J-Tyrc-2J/J) and then maintained by mating heterozygotes.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | (approximate) | |
| Considerations for Choosing Controls | ||
Related Strains
lacZ Expression Strains
View lacZ Expression Strains (176 strains)
Additional Web Information
Congenic Nomenclature
Fluorescent Proteins/lacZ Systems
Phenotype
Phenotype Information
This mouse can be used to support research in many areas including:
Developmental Biology Research
Craniofacial and Palate Defects
Embryonic Lethality (Homozygous) (incomplete)
Perinatal Lethality (Homozygous)
Skeletal Defects (polydactyly)
Diabetes and Obesity Research
Obesity Without Diabetes
Research Tools
lacZ Expression
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Rai1tm1Jrl | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, James R Lupski | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | Rai1-; | ||
| Mutation Made By | James Lupski, Baylor College of Medicine | ||
| Strain of Origin | 129S/SvEvBrd | ||
| ES Cell Line Strain | 129 | ||
| Site of Expression | Heterozygous embryos show differential tissue expression of lacZ during development, mimicking the expression pattern of Rai1. | ||
| Gene Symbol and Name | Rai1, retinoic acid induced 1 | ||
| Chromosome | 11 | ||
| Gene Common Name(s) | DKFZp434A139; Gt1; KIAA1820; MGC12824; SMCR; SMS; | ||
| Molecular Note | An approximately 4.0 kb of the coding region in exon 2 was replaced by an intra-ribosomal entry site IRES-lacZ-pA cassette followed by a loxP flanked PGKneobpA cassette. RT-PCR indicated that only sequence 5' of the deleted region was present in transcripts. This truncation eliminates all nuclear localization regions and the PHD domain. [MGI Ref ID J:98073] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Rai1tm1Jrl, SEP PCR, vers. 1
Helpful Links
Optimizing PCR Protocols
References
References
Selected Reference(s)
Bi W; Ohyama T; Nakamura H; Yan J; Visvanathan J; Justice MJ; Lupski JR. 2005. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet 14(8):983-95. [PubMed: 15746153] [MGI Ref ID J:98073]
Additional References
Rai1tm1Jrl relatedBi W; Yan J; Shi X; Yuva-Paylor LA; Antalffy BA; Goldman A; Yoo JW; Noebels JL; Armstrong DL; Paylor R; Lupski JR. 2007. Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. Hum Mol Genet 16(15):1802-13. [PubMed: 17517686] [MGI Ref ID J:125089]
Walz K; Paylor R; Yan J; Bi W; Lupski JR. 2006. Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). J Clin Invest 116(11):3035-41. [PubMed: 17024248] [MGI Ref ID J:114996]
Yan J; Bi W; Lupski JR. 2007. Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. Am J Hum Genet 80(3):518-25. [PubMed: 17273973] [MGI Ref ID J:125240]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number AX11
Colony Maintenance
Breeding & Husbandry When maintaining a live colony, heterozygous mice are bred to wildtype siblings (or to Stock No. 000058, albino C57BL/6J). The vast majority of homozygotes die during development or before weaning age. As the background is C57BL/6 albino, mice are white. Mating System +/+ sibling x Heterozygote (Female x Male) Diet Information LabDiet® 5K52/5K67
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
This strain is currently This strain is currently on HOLD - Contact Customer Service for more information..
To register your interest in this strain go to the Strain Interest Form.
Estimated Available for Sale Date: 02-OCT-06
Please note: Estimated available for sale dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for sale depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain/interest registered.
View All Strains Under Development and On Hold
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $236.40 Female or Male Heterozygous for Rai1tm1Jrl *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $288.65 Heterozygous for Rai1tm1Jrl x Wild-type for Rai1tm1Jrl $288.65 Wild-type for Rai1tm1Jrl x Heterozygous for Rai1tm1Jrl
Additional Supply Details
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| Pricing for International shipping destinations |
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Weeks of Age Price* Gender Genotypes Provided Individual Mouse Price $307.40 Female or Male Heterozygous for Rai1tm1Jrl *Price(s) in US dollars ($)
Pairs /Price* Pair Genotype $375.30 Heterozygous for Rai1tm1Jrl x Wild-type for Rai1tm1Jrl $375.30 Wild-type for Rai1tm1Jrl x Heterozygous for Rai1tm1Jrl
Additional Supply Details
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Supply Details
| Standard Supply | This strain is currently on HOLD - Contact Customer Service for more information. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | (approximate) | |
| 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
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Terms of Use
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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.
For additional Licensing and Use Restrictions view the link(s) below:
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Contact information
General inquiries
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| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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