Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Donating Investigator Gregory R Dressler, University of Michigan Description
Paxip1, PAX interacting (with transcription-activation domain) protein 1, (PTIP) associates with histone H3K4 methyltransferases and is involved in DNA damage response, transcriptional regulation and progression through mitosis. These mice possess loxP sites on either side of exon 1 of the targeted gene. Mice that are homozygous for this allele are viable and fertile. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 1 deleted in the cre-expressing tissues.When bred to a strain with Cre recombinase expression in the renal inner medulla, this mutant mouse strain may be useful in studies of renal physiology, urine concentration and osmotic tolerance.
Development
A targeting vector containing a FRT site flanked NEO cassette was utilized in the construction of this mutant. This selection cassette was inserted upstream of exon 1 of the targeted gene, and another loxP site was inserted downstream of exon 1. This construct was electroporated into 129 derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 X (C57BL/6 X DBA/2)F1 blastocysts. Resulting chimeric male animals were backcrossed to wildtype C57BL/6 mice. The mice were then crossed to transgenic mice (on the C57BL/6 genetic background) expressing FLP1 recombinase to remove the selection cassette. Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6J (Stock No. 000664) at least once to establish the colony.
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | (approximate) | |
| Considerations for Choosing Controls | ||
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. Alzheimer Disease; AD (PAXIP1)
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.
Paxip1tm2Gdr/Paxip1tm2Gdr
involves: 129S1/Sv * 129X1/SvJ
- normal phenotype
- no abnormal phenotype detected
- mice have no distinguishable phenotype (MGI Ref ID J:128440)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:
Cancer Research
Other
DNA Repair
Cell Biology Research
DNA Damage Response
Research Tools
Cre-lox System
loxP-flanked Sequences
| Allele Symbol | Paxip1tm2Gdr | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Gregory R Dressler | ||
| Allele Type | Targeted (Floxed/Frt) | ||
| Common Name(s) | PTIPflox; ptipfl; ptiploxP; | ||
| Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | ||
| Gene Symbol and Name | Paxip1, PAX interacting (with transcription-activation domain) protein 1 | ||
| Chromosome | 5 | ||
| Gene Common Name(s) | CAGF29; D5Ertd149e; DNA segment, Chr 5, ERATO Doi 149, expressed; PACIP1; PAXIP1L; PTIP; TNRC2; | ||
| Molecular Note | A neo cassette flanked by FRT sites was inserted upstream of exon 1 and an additional loxP site was inserted downstream of exon 1. The neo cassette was subsequently removed by flp-mediated recombination. [MGI Ref ID J:128440] [MGI Ref ID J:148599] | ||
Genotyping Protocols
Paxip1tm2Gdr, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
Patel SR; Kim D; Levitan I; Dressler GR. 2007. The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex. Dev Cell 13(4):580-92. [PubMed: 17925232] [MGI Ref ID J:128440]
Paxip1tm2Gdr relatedCallen E; Faryabi RB; Luckey M; Hao B; Daniel JA; Yang W; Sun HW; Dressler G; Peng W; Chi H; Ge K; Krangel MS; Park JH; Nussenzweig A. 2012. The DNA damage- and transcription-associated protein paxip1 controls thymocyte development and emigration. Immunity 37(6):971-85. [PubMed: 23159437] [MGI Ref ID J:191076]
Cho YW; Hong S; Jin Q; Wang L; Lee JE; Gavrilova O; Ge K. 2009. Histone methylation regulator PTIP is required for PPARgamma and C/EBPalpha expression and adipogenesis. Cell Metab 10(1):27-39. [PubMed: 19583951] [MGI Ref ID J:151619]
Kim D; Wang M; Cai Q; Brooks H; Dressler GR. 2007. Pax transactivation-domain interacting protein is required for urine concentration and osmotolerance in collecting duct epithelia. J Am Soc Nephrol 18(5):1458-65. [PubMed: 17429055] [MGI Ref ID J:148599]
Lefevre GM; Patel SR; Kim D; Tessarollo L; Dressler GR. 2010. Altering a histone H3K4 methylation pathway in glomerular podocytes promotes a chronic disease phenotype. PLoS Genet 6(10):e1001142. [PubMed: 21060806] [MGI Ref ID J:167530]
Schwab KR; Patel SR; Dressler GR. 2011. Role of PTIP in Class Switch Recombination and Long-Range Chromatin Interactions at the Immunoglobulin Heavy Chain Locus. Mol Cell Biol 31(7):1503-11. [PubMed: 21282469] [MGI Ref ID J:170100]
Schwab KR; Smith GD; Dressler GR. 2013. Arrested spermatogenesis and evidence for DNA damage in PTIP mutant testes. Dev Biol 373(1):64-71. [PubMed: 23063797] [MGI Ref ID J:190993]
Stein AB; Jones TA; Herron TJ; Patel SR; Day SM; Noujaim SF; Milstein ML; Klos M; Furspan PB; Jalife J; Dressler GR. 2011. Loss of H3K4 methylation destabilizes gene expression patterns and physiological functions in adult murine cardiomyocytes. J Clin Invest 121(7):2641-50. [PubMed: 21646717] [MGI Ref ID J:175659]
Wang P; Lin C; Smith ER; Guo H; Sanderson BW; Wu M; Gogol M; Alexander T; Seidel C; Wiedemann LM; Ge K; Krumlauf R; Shilatifard A. 2009. Global analysis of H3K4 methylation defines MLL family member targets and points to a role for MLL1-mediated H3K4 methylation in the regulation of transcriptional initiation by RNA polymerase II. Mol Cell Biol 29(22):6074-85. [PubMed: 19703992] [MGI Ref ID J:154938]
Colony Maintenance
Breeding & Husbandry When maintaining a live colony, these mice can be bred as homozygotes. Diet Information LabDiet® 5K52/5K67
This strain is currently Under Development for Cryo.
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | (approximate) | |
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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| fax: | 207-288-6655 |
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