Strain Name: |
129-Alpltm1Sor/J |
|---|---|
Stock Number: |
002484 |
Availability: | Repository-Cryopreserved |
Price and Supply Information | |
General Terms and Conditions |
| Former Name |
129-Akp2tm1Sor/J (Changed: 27-DEC-07
) |
| Genes & Alleles | Alpl; Alpltm1Sor; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Strain Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Targeted Mutation Species laboratory mouse Donating Investigator Grant MacGregor, University of California, Irvine Strain Description
Mice heterozygous for the Alpltm1Sor targeted mutation appear normal and viable. Homozygous mutant mice are perinatal lethals but can be rescued by pyridoxal treatment. Surviving homozygotes develop epilepsy due to reduced GABA levels in the brain. Bone formation does not appear to be grossly affected in untreated animals, but treated animals exhibit cranial dysmorphology. The targeting vector contained both a b-galalactosidase and a neomycin genes (beta-geo), both of which are under the control of the Alpl promoter and are thus expressed in a tissue specific manner. Specifically, expression occurs in developing bones and in primordial germ cells (PGC), and the beta-galactosidase thus serves as a marker for these tissues. The marker for PGC's is particularly significant because the current marker (alkaline phosphatase staining) is only useful to study early germ cell migration.Strain Development
This targeted mutant was made in the laboratory of Dr. Phillipe Soriano by Dr. Grant MacGregor (currently at Emory University School of Medicine). A lacZ/neo (beta-geo) targeting vector was used which substituted a portion of the Alpl gene.
Related Disease (OMIM) Terms |
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Alpltm1Sor | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Philippe Soriano | ||
| Common Name(s) | TNAP-bgeo; Tnap-; | ||
| Mutation Made By | Grant MacGregor, University of California, Irvine | ||
| Strain of Origin | 129S7/SvEvBrd-Hprt1<+> | ||
| ES Cell Line Name | AB1 | ||
| ES Cell Line Strain | 129S7/SvEvBrd-Hprt1<+> | ||
| Site of Expression | lacZ expression is detected in developing bones and in primordial germ cells (PGC). | ||
| Gene Symbol and Name | Alpl, alkaline phosphatase, liver/bone/kidney | ||
| Chromosome | 4 | ||
| Gene Common Name(s) | AP-TNAP; Akp-2; Akp2; FLJ40094; FLJ93059; HOPS; MGC161443; MGC167935; MGC93545; PHOA; TNAP; TNSALP; alkaline phosphatase 2, liver; | ||
| General Note | Akp2tm1Sor, alkaline phosphatase 2, targeted mutaton 1, Philippe Soriano. Only the embryonic (EAP) and tissue non-specific (TNAP) forms of alkaline phosphatase are expressed in mouse embryos. EAP is the predominant form of the enzyme in the early embryo, but predominance switches to TNAP about the 7th embryonic day. Akp2tm1Sor was used to clarify the expression of TNAP in mouse primordial germ cells. These cells do not express TNAP before gastrulation, but the enzyme is elaborated by extraembryonic tissue prior to that stage. Primordial germ cells do not require TNAP for either development or migration (J:25249).Although a lack of TNAP causes defects in human skeletal mineralization, Akp2tm1Sor homozygous mice develop skeletons normal at birth. But at approximately 2 weeks after birth, these mice develop seizures leading to a fatal outcome. The seizures arise from faulty metabolism of pyridoxal (vitamin B6), and can be rescued by administration of pyridoxal. Rescued survivors later develop defects in dentition (J:28394). | ||
| Molecular Note | A neomycin cassette replaced 1.6 kb of the gene, from a portion of exon 2 to a portion of exon 6. The construct deleted the active site of the protein, Ser 93, located in exon 5. RT-PCR of total RNA from E13 gonads of homozygous mutant mice did not detect transcript. In addition, lack of protein in homozygous mutant mice was demonstrated functionally. [MGI Ref ID J:25249] | ||
Control Information
| Allele | Control | |
|---|---|---|
| Alpltm1Sor | Wild-type from the colony | |
| Alpltm1Sor | 002448 129S1/SvImJ | (approximate) |
| Considerations for Choosing Controls | ||
| Control Pricing Information for JAX® GEMM® Strains | ||
Genotyping Protocols
Alpltm1Sor
Colony Maintenance
| Breeding & Husbandry | Mice are maintained by mating heterozgyous siblings or heterozygous carriers to wildtype littermate controls. Homozygous mutant mice may be recovered by injection of pyridoxal. Success using this treatment very dependent on dosage. Information from the originating investigator also suggests that the type of diet and preparation may be important for maintenance of the strain. He suggests Purina autoclavable 5021. |
|---|
Related Strains
lacZ Expression Strains
View lacZ Expression Strains (174 strains)
002741 B6.129S7-Alpltm1Sor/J 002317 B6;129S7-Alpltm1Sor/J
008569 129-Alpltm1(cre)Nagy/J
Additional Web Information
Fluorescent Proteins/lacZ Systems
New 129 Nomenclature Bulletin
Research Applications
This mouse can be used to support research in many areas including:
Alpltm1Sor relatedDevelopmental Biology Research
Perinatal Lethality (Homozygous)
Skeletal Defects (human infantile hypophosphatasia model)
Neurobiology Research
Epilepsy
Research Tools
lacZ Expression
Developmental Biology Research
Neurobiology Research (cell marker)
Cancer Research
Genes Regulating Growth and Proliferation
Metabolism Research
Vitamin B-6 Metabolism Defects
Neurobiology Research
Epilepsy
Metabolic Defects (vitamin B-6 metabolism defects)
Research Tools
Genetics Research (Tissue/Cell Markers: primordial germ cell marker)
Reproductive Biology Research (primordial germ cell marker)
References
Selected Reference(s)
Additional ReferencesMacGregor GR; Zambrowicz BP; Soriano P. 1995. Tissue non-specific alkaline phosphatase is expressed in both embryonic and extraembryonic lineages during mouse embryogenesis but is not required for migration of primordial germ cells. Development 121(5):1487-96. [PubMed: 7789278] [MGI Ref ID J:25249]
Price and Supply Information
| Strain Name: | 129-Alpltm1Sor/J |
| Stock Number: | 002484 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:
- USA, Canada and Mexico
- International
*Pricing for Shipping Destination selected:
International
| Price(s) in US dollars ($) | |||||
|---|---|---|---|---|---|
| Cryorecovery Fee | $2470.00 | ||||
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. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. View Control Pricing Information for JAX® Strains. |
General Terms and Conditions
View JAX® Mice & Services Conditions 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