Strain Name:

129S-Pafah1b1tm2Awb/J

Stock Number:

008002

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Availability:

Cryopreserved - Ready for recovery

These mice possess loxP sites flanking exons 3 through 6 of the targeted gene. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 3 through 6 deleted in the cre-expressing tissue(s). This mutant mouse strain may be useful in studies of neurological development.

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

Type Mutant Stock; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
 
Donating InvestigatorDr. Anthony Wynshaw-Boris,   Case Western Reserve University, School of Medicine

Description
These mice possess loxP sites flanking exons 3 through 6 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Histological analysis of brains from homozygotes reveals slightly wider CA1 and CA3 regions and a split in CA2 region in the hippocampus. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 3 through 6 deleted in the cre-expressing tissue(s).

Development
A loxP site flanked targeting vector containing PGKneo was utilized in the construction of this mutant.

This selection cassette was inserted into intron 2 of the targeted gene, and another loxP site was inserted into intro 6. This construct was electroporated into 129S6/SvEvTac derived TC-1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric animals were crossed to 129S6/SvEvTac mice for 9 generations. Upon arrival at The Jackson Laboratory, mice were bred to 129S1/SvImJ mice (Stock No. 002448) for at least one generation to establish the colony.

Control Information

  Control
   002448 129S1/SvImJ (approximate)
 
  Considerations for Choosing Controls

Additional Web Information

Introduction to Cre-lox technology

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Lissencephaly 1; LIS1   (PAFAH1B1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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

Pafah1b1tm2Awb/Pafah1b1tm2Awb

        involves: 129S/SvEv * FVB/N * NIH Black Swiss
  • nervous system phenotype
  • abnormal hippocampus morphology
    • subtly abnormal   (MGI Ref ID J:49531)
View Research Applications

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

Neurobiology Research
Cre-lox System
      loxP-flanked Sequences

Research Tools
Cre-lox System
      loxP-flanked Sequences
Developmental Biology Research
      Cre-lox System

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Pafah1b1tm2Awb
Allele Name targeted mutation 2, Anthony Wynshaw-Boris
Allele Type Targeted (Floxed/Frt)
Common Name(s) Lis1-loxP; Pafah1b1-loxP; Pafah1b1loxPex3-6;
Mutation Made ByDr. Anthony Wynshaw-Boris,   Case Western Reserve University, School of Medicine
Strain of Origin129S6/SvEvTac
ES Cell Line NameTC1/TC-1
ES Cell Line Strain129S6/SvEvTac
Gene Symbol and Name Pafah1b1, platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
Chromosome 11
Gene Common Name(s) LIS-1; LIS1; LIS2; MDCR; MDS; Mdsh; Miller-Dieker syndrome homolog; PAF-AH 45; PAFAH; Pafaha; lissencephaly-1 protein; platelet-activating factor acetylhydrolase, alpha subunit;
Molecular Note A floxed PGK-neo cassette was inserted into intron 2 and a third loxP site was introduced into intron 6 via homologous recombination. This allele is hypomorphic, because of disruption of transcription or splicing by the insertion of a phosphoglycerate kinase neomycin cassette from the targeting vector into the second intron (J:82268). [MGI Ref ID J:49531]

Genotyping

Genotyping Information

Genotyping Protocols

Pafah1b1tm2Awb, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Hirotsune S; Fleck MW; Gambello MJ; Bix GJ; Chen A; Clark GD; Ledbetter DH; McBain CJ; Wynshaw-Boris A. 1998. Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality [see comments] Nat Genet 19(4):333-9. [PubMed: 9697693]  [MGI Ref ID J:49531]

Additional References

Pafah1b1tm2Awb related

Gambello MJ; Darling DL; Yingling J; Tanaka T; Gleeson JG; Wynshaw-Boris A. 2003. Multiple dose-dependent effects of Lis1 on cerebral cortical development. J Neurosci 23(5):1719-29. [PubMed: 12629176]  [MGI Ref ID J:82268]

Hunt RF; Dinday MT; Hindle-Katel W; Baraban SC. 2012. LIS1 Deficiency Promotes Dysfunctional Synaptic Integration of Granule Cells Generated in the Developing and Adult Dentate Gyrus. J Neurosci 32(37):12862-75. [PubMed: 22973010]  [MGI Ref ID J:187663]

Pramparo T; Libiger O; Jain S; Li H; Youn YH; Hirotsune S; Schork NJ; Wynshaw-Boris A. 2011. Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects. PLoS Genet 7(3):e1001331. [PubMed: 21423666]  [MGI Ref ID J:171698]

Sasaki S; Shionoya A; Ishida M; Gambello MJ; Yingling J; Wynshaw-Boris A; Hirotsune S. 2000. A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system. Neuron 28(3):681-96. [PubMed: 11163259]  [MGI Ref ID J:66505]

Sipe CW; Liu L; Lee J; Grimsley-Myers C; Lu X. 2013. Lis1 mediates planar polarity of auditory hair cells through regulation of microtubule organization. Development 140(8):1785-95. [PubMed: 23533177]  [MGI Ref ID J:195272]

Sumigray KD; Chen H; Lechler T. 2011. Lis1 is essential for cortical microtubule organization and desmosome stability in the epidermis. J Cell Biol 194(4):631-42. [PubMed: 21844209]  [MGI Ref ID J:176963]

Yingling J; Youn YH; Darling D; Toyo-Oka K; Pramparo T; Hirotsune S; Wynshaw-Boris A. 2008. Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division. Cell 132(3):474-86. [PubMed: 18267077]  [MGI Ref ID J:135521]

Youn YH; Pramparo T; Hirotsune S; Wynshaw-Boris A. 2009. Distinct dose-dependent cortical neuronal migration and neurite extension defects in Lis1 and Ndel1 mutant mice. J Neurosci 29(49):15520-30. [PubMed: 20007476]  [MGI Ref ID J:156181]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3175.00
Animals Provided

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 View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4127.50
Animals Provided

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).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   002448 129S1/SvImJ (approximate)
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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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