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- 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
Former Names 129-Akp2tm1Sor/J (Changed: 27-DEC-07 ) Type Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N?+2F2+N1p (19-JUN-05)
Generation DefinitionsDonating Investigator Dr. Grant MacGregor, University of California, Irvine 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.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.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 002448 129S1/SvImJ | (approximate) | |
| Considerations for Choosing Controls | ||
Related Strains
lacZ Expression Strains
View lacZ Expression Strains (255 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
Phenotype
Phenotype Information
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Hypophosphatasia, Adult
Hypophosphatasia, Childhood
Hypophosphatasia, Infantile
assigned by genotype
Alpltm1Sor/Alpltm1Sor
either: (involves: 129S7/SvEvBrd-Alpltm1Sor) or (involves: 129S7/SvEvBrd * C57BL/6)
- mortality/aging
- complete postnatal lethality
- attributed to development of seizures at 2 weeks of age (MGI Ref ID J:28394)
- behavior/neurological phenotype
- seizures
- develop at 2 weeks of age (MGI Ref ID J:28394)
- craniofacial phenotype
- abnormal tooth morphology
- in mice rescued by pyridoxal supplementation to repair PLP defect, exhibit defective tooth and enamel formation (MGI Ref ID J:28394)
- growth/size phenotype
- decreased body size
- size ranged from 50 - 100% of heterozygous or wild-type littermates (MGI Ref ID J:28394)
- homeostasis/metabolism phenotype
- abnormal blood homeostasis
- nervous system phenotype
- seizures
- develop at 2 weeks of age (MGI Ref ID J:28394)
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
Tissue/Cell Markers: primordial germ cell marker
Reproductive Biology Research
primordial germ cell marker
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Alpltm1Sor | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Philippe Soriano | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | TN-APBetageo; TNAP-bgeo; Tnap-; | ||
| Mutation Made By | Dr. Grant MacGregor, University of California, Irvine | ||
| Strain of Origin | 129S7/SvEvBrd-Hprt<+> | ||
| ES Cell Line Name | AB1 | ||
| ES Cell Line Strain | 129S7/SvEvBrd-Hprt<+> | ||
| Site of Expression | lacZ expression is detected in developing bones and in primordial germ cells (PGC). | ||
| Expressed Gene | lacZ, beta-galactosidase, E. coli | ||
| General Note | 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). | ||
| 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] | ||
| Gene Symbol and Name | Alpl, alkaline phosphatase, liver/bone/kidney | ||
| Chromosome | 4 | ||
| Gene Common Name(s) | AP-TNAP; APTNAP; Akp-2; Akp2; HOPS; PHOA; TNAP; TNSALP; alkaline phosphatase 2, liver; | ||
Genotyping
Genotyping Information
Genotyping Protocols
Alpltm1Sor, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
MacGregor 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]
Additional References
Fedde KN; Blair L; Silverstein J; Coburn SP; Ryan LM; Weinstein RS; Waymire K; Narisawa S; Millan JL; MacGregor GR; Whyte MP. 1999. Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J Bone Miner Res 14(12):2015-26. [PubMed: 10620060] [MGI Ref ID J:78130]
Hessle L; Johnson KA; Anderson HC; Narisawa S; Sali A; Goding JW; Terkeltaub R; Millan JL. 2002. Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci U S A 99(14):9445-9. [PubMed: 12082181] [MGI Ref ID J:77731]
Waymire KG; Mahuren JD; Jaje JM; Guilarte TR; Coburn SP; MacGregor GR. 1995. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat Genet 11(1):45-51. [PubMed: 7550313] [MGI Ref ID J:28394]
Alpltm1Sor relatedBeertsen W; VandenBos T; Everts V. 1999. Root development in mice lacking functional tissue non-specific alkaline phosphatase gene: inhibition of acellular cementum formation. J Dent Res 78(6):1221-9. [PubMed: 10371245] [MGI Ref ID J:55788]
Dellavalle A; Maroli G; Covarello D; Azzoni E; Innocenzi A; Perani L; Antonini S; Sambasivan R; Brunelli S; Tajbakhsh S; Cossu G. 2011. Pericytes resident in postnatal skeletal muscle differentiate into muscle fibres and generate satellite cells. Nat Commun 2:499. [PubMed: 21988915] [MGI Ref ID J:188175]
Fedde KN; Blair L; Silverstein J; Coburn SP; Ryan LM; Weinstein RS; Waymire K; Narisawa S; Millan JL; MacGregor GR; Whyte MP. 1999. Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J Bone Miner Res 14(12):2015-26. [PubMed: 10620060] [MGI Ref ID J:78130]
Halling Linder C; Englund UH; Narisawa S; Millan JL; Magnusson P. 2013. Isozyme profile and tissue-origin of alkaline phosphatases in mouse serum. Bone 53(2):399-408. [PubMed: 23313280] [MGI Ref ID J:193833]
Murshed M; Harmey D; Millan JL; McKee MD; Karsenty G. 2005. Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone. Genes Dev 19(9):1093-104. [PubMed: 15833911] [MGI Ref ID J:98452]
Tesch W; Vandenbos T; Roschgr P; Fratzl-Zelman N; Klaushofer K; Beertsen W; Fratzl P. 2003. Orientation of mineral crystallites and mineral density during skeletal development in mice deficient in tissue nonspecific alkaline phosphatase. J Bone Miner Res 18(1):117-25. [PubMed: 12510812] [MGI Ref ID J:111194]
Waymire KG; Mahuren JD; Jaje JM; Guilarte TR; Coburn SP; MacGregor GR. 1995. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat Genet 11(1):45-51. [PubMed: 7550313] [MGI Ref ID J:28394]
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 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.
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.
General Supply Notes
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 002448 129S1/SvImJ | (approximate) | |
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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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 Information
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| phone: | 207-288-6470 |
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