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   Donating Investigator Alexandra Shedlovsky,   University of Wisconsin

Description
Homozygous mutant mice show a delay in the clearing of a load of phenylalanine.

Control Information

	Control
	002282 BTBR T+ tf/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)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

NOT	Phenylketonuria; PKU - No similarity to the expected human disease phenotype was found.4

4 One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Pah^enu1/Pah^enu1

        involves: 101 * C3H

• homeostasis/metabolism phenotype
• abnormal circulating amino acid level (MGI Ref ID J:62365)
  • plasma phenylalanine levels near control levels on a normal diet
  • IP injection causes a 5X greater increase in plasma phenylalanine that takes 6hr rather than 2 hr to return to normal
• reproductive system phenotype
• decreased litter size (MGI Ref ID J:62365)
  • slightly reduced litter size
  • small drop in number of pups surviving to weaning
• behavior/neurological phenotype
• *normal* behavior/neurological phenotype (MGI Ref ID J:62365)
  • learning and short-term memory are normal learning and short-term memory normal

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Pah^enu1 related

Metabolism Research

Mouse/Human Gene Homologs
phenylketonuria

Neurobiology Research
Metabolic Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Pahenu1
Allele Name		phenylalanine hydroxylase enu 1
Allele Type		Chemically induced (ENU)
Common Name(s)		PAHenu2; Pahhph-5;
Mutation Made By		William Dove,   University of Wisconsin
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]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

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]

Pah^enu1 related

Joseph 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]

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

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. At least two mice that carry the mutation (if it is a mutant strain) will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotypes and genders are needed. IMPORTANT NOTE: The genotypes of the 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 for possible genotypes for this specific strain. Animals typically ship within 13 to 16 weeks from your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will typically ship within 25 weeks. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	002282 BTBR T+ tf/J
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.

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Ordering and Purchasing Information

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Contact Information
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Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

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