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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 BTBR-Pahenu1/J (Changed: 13-MAR-08 ) Type Chemically Induced Mutation; Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation F?+4p
Generation DefinitionsDonating Investigator Dr. Alexandra Shedlovsky, University of Wisconsin , Madison Description
Homozygous mutant mice show a delay in the clearing of a load of phenylalanine.
Control Information
| Control | ||
|---|---|---|
| 002282 BTBR T+ Itpr3tf/J | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of Pah
002232 BTBR-Pahenu2/J View Strains carrying other alleles of Pah (1 strain)
Phenotype
Phenotype Information
- No similarity to the expected human disease phenotype was found. One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of these genes, but the phenotype did not resemble the disease.
Phenylketonuria; PKU
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Pahenu1/Pahenu1
involves: 101 * C3H
- homeostasis/metabolism phenotype
- abnormal circulating amino acid level (MGI Ref ID J:62365)
- reproductive system phenotype
- decreased litter size
- behavior/neurological phenotype
- *normal* behavior/neurological phenotype
- learning and short-term memory are normal learning and short-term memory normal (MGI Ref ID J:62365)
This mouse can be used to support research in many areas including:Pahenu1 related
Mouse/Human Gene Homologs
phenylketonuria
Neurobiology Research
Metabolic Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Pahenu1 | ||
|---|---|---|---|
| Allele Name | phenylalanine hydroxylase enu 1 | ||
| Allele Type | Chemically induced (ENU) | ||
| Common Name(s) | PAHenu2; Pahhph-5; | ||
| Mutation Made By | Dr. William Dove, University of Wisconsin- Madison | ||
| Strain of Origin | (101 x C3H)F1 | ||
| Gene Symbol and Name | Pah, phenylalanine hydroxylase | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | AW106920; PH; PKU; PKU1; expressed sequence AW106920; | ||
| Molecular Note | A T364C missense mutation in exon 3 results in a valine to alanine substitution at amino acid 106 (V106A). [MGI Ref ID J:38411] | ||
References
References provided by MGI
Selected Reference(s)
McDonald JD; Bode VC; Dove WF; Shedlovsky A. 1990. Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase. Proc Natl Acad Sci U S A 87(5):1965-7. [PubMed: 2308957] [MGI Ref ID J:10355]
Additional References
Hommes FA. 1993. The effect of hyperphenylalaninaemia on the muscarinic acetylcholine receptor in the HPH-5 mouse brain. J Inherit Metab Dis 16(6):962-74. [PubMed: 8127072] [MGI Ref ID J:18793]
Hommes FA; Moss L. 1992. Myelin turnover in hyperphenylalaninaemia. A re-evaluation with the HPH-5 mouse. J Inherit Metab Dis 15(2):243-51. [PubMed: 1527991] [MGI Ref ID J:1372]
Shedlovsky A; McDonald JD; Symula D; Dove WF. 1993. Mouse models of human phenylketonuria. Genetics 134(4):1205-10. [PubMed: 8375656] [MGI Ref ID J:13320]
Pahenu1 relatedJoseph B; Dyer CA. 2003. Relationship between myelin production and dopamine synthesis in the PKU mouse brain. J Neurochem 86(3):615-26. [PubMed: 12859675] [MGI Ref ID J:125997]
McDonald JD; Charlton CK. 1997. Characterization of mutations at the mouse phenylalanine hydroxylase locus. Genomics 39(3):402-5. [PubMed: 9119379] [MGI Ref ID J:38411]
Sarkissian CN; Boulais DM; McDonald JD; Scriver CR. 2000. A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia. Mol Genet Metab 69(3):188-94. [PubMed: 10767173] [MGI Ref ID J:62365]
Solverson P; Murali SG; Brinkman AS; Nelson DW; Clayton MK; Yen CL; Ney DM. 2012. Glycomacropeptide, a low-phenylalanine protein isolated from cheese whey, supports growth and attenuates metabolic stress in the murine model of phenylketonuria. Am J Physiol Endocrinol Metab 302(7):E885-95. [PubMed: 22297302] [MGI Ref ID J:184631]
Surendran S; Tyring SK; Matalon R. 2005. Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: possible role on cognitive defect seen in PKU. Neurochem Int 46(8):595-9. [PubMed: 15863237] [MGI Ref ID J:103498]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.Colony Maintenance
Diet Information LabDiet® 5K52/5K67
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* $3000.00 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* $3900.00 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 | ||
|---|---|---|
| 002282 BTBR T+ Itpr3tf/J | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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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 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
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