Strain Name:

B6.129S5-Irf6Gt(OST398253)Lex/J

Stock Number:

016902

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Availability:

Repository- Live

These mice harbor a gene construct (VICTR48) that contains a neomycin resistance (neo), integrated downstream of the splice donor site of the interferon regulatory factor 6 (Irf6) gene. These mice may be useful for studying craniofacial development and keratinocytes differentiation.

Description

Strain Information

Type Congenic; Gene Trap; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Mating SystemWild-type x Heterozygote         (Female x Male)   13-JAN-12
Mating SystemHeterozygote x Wild-type         (Female x Male)   13-JAN-12
Specieslaboratory mouse
Generation?+F2 (07-JAN-13)
Generation Definitions
 
Donating Investigator Brian Schutte,   Michigan State University

Description
In this strain a gene construct (VICTR48), containing a neomycin resistance (neo), integrated downstream of the splice donor site of the interferon regulatory factor 6 (Irf6) gene. Mice that are heterozygous for the gene trap mutation are viable and fertile. Homozygotes have a perinatal lethal phenotype. IRF6 is a transcription factor involved in keratinocyte, epidermal, and epithelial cell proliferation as well as craniofacial development. IRF6 is expressed in the skin and oral epithelium from E17.5. Heterozygotes have mild oral adhesions between epithelial layers of the maxilla and mandible. Homozygous embryos have taut, shiny skin, lack external ears and have snouts and jaws shorter and more rounded than their wild-type littermates. They also have short forelimbs that lacked visible digits, a single caudal projection that lacked visible hindlimbs and tail, and a cleft secondary palate. Their skeleton also exhibits a split xiphoid process, shortened sternum, delayed ossification of sternum and vertebrae, and synostosis. These mice may be useful for studying craniofacial development and keratinocytes differentiation.

Development
A gene trap construct (VICTR48) containing a neomycin resistance (neo) cassette and polyadenylation signal (polyA) was introduced by retroviral infection into 129S5/SvEvBrd-derived Lex-1 embryonic stem (ES) cells. The construct integrated downstream of the splice donor site of the interferon regulatory factor 6 (Irf6) gene. Correctly targeted OST398253 ES cells were injected into C57BL/6 blastocysts. The resulting chimeric males were crossed to C57BL/6 females to establish the colony. This strain was backcrossed to C57BL/6 for at least 10 generations. Upon arrival at The Jackson Laboratory, the mice were crossed once to C57BL/6J (Stock No. 000664) for at least one generation.

Control Information

  Control
   Heterozygote from the colony
   Wild-type from the colony
   000664 C57BL/6J (approximate)
 
  Considerations for Choosing Controls

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022360   B6;129S6-Rr25tm1Axvi/Mmjax
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View Facebase: models     (61 strains)

Strains carrying other alleles of Irf6
012655   FVB.A-Irf6clft1/BeiJ
View Strains carrying other alleles of Irf6     (1 strain)

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.
Orofacial Cleft 6, Susceptibility To; OFC6   (IRF6)
Popliteal Pterygium Syndrome; PPS   (IRF6)
Van Der Woude Syndrome 1; VWS1   (IRF6)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Irf6Gt(OST398253)Lex/Irf6Gt(OST398253)Lex

        involves: 129S5/SvEvBrd
  • craniofacial phenotype
  • failure of palatal shelf elevation
    • the palate shelves fail to elevate   (MGI Ref ID J:160190)
  • palatal shelf fusion with tongue or mandible
    • the palate shelves adhere completely to the tongue   (MGI Ref ID J:160190)
  • digestive/alimentary phenotype
  • failure of palatal shelf elevation
    • the palate shelves fail to elevate   (MGI Ref ID J:160190)
  • palatal shelf fusion with tongue or mandible
    • the palate shelves adhere completely to the tongue   (MGI Ref ID J:160190)
  • integument phenotype
  • abnormal skin development
    • abnormalities in size and shape of keratinocytes   (MGI Ref ID J:180634)
    • abnormalities in proliferation and differentiation of keratinocytes   (MGI Ref ID J:180634)
  • growth/size/body phenotype
  • failure of palatal shelf elevation
    • the palate shelves fail to elevate   (MGI Ref ID J:160190)
  • palatal shelf fusion with tongue or mandible
    • the palate shelves adhere completely to the tongue   (MGI Ref ID J:160190)
View Research Applications

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

Developmental Biology Research
Craniofacial and Palate Defects
      cleft palate and cleft lip
Perinatal Lethality
      Homozygous
Skeletal Defects
      truncated forelimbs, no hind limbs

Endocrine Deficiency Research
Skin Defects

Internal/Organ Research
Skeleton
      Bone

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Irf6Gt(OST398253)Lex
Allele Name gene trap OST398253, Lexicon Genetics
Allele Type Gene trapped
Common Name(s) Irf6Gt(VICTR48)1Bcsl; Irf6gt1;
Mutation Made By Brian Schutte,   Michigan State University
Strain of Origin129S5/SvEvBrd
Gene Symbol and Name Irf6, interferon regulatory factor 6
Chromosome 1
Gene Common Name(s) AI876454; E230028I05Rik; LPS; OFC6; PIT; PPS; PPS1; RIKEN cDNA E230028I05 gene; VWS; VWS1; expressed sequence AI876454;
General Note This mutation is present in Lexicon Genomics' gene trap-mutated ES cell line OST398253. It was generated in an unspecified 129/Sv-derived ES cell line by random insertion of the VICTR48 gene trap vector.
Molecular Note The gene trap vector VICTR48 inserted into intron 1, 36 bp from the splice donor site. The vector contained flanking long terminal repeats, splice acceptor and donor sites, the ORF for neo, stop codons, polyA signal, the PGK promoter, marker fusion transcript and OmniBank sequence tag fusion transcript. Protein was not detected in mutants by Western blot. [MGI Ref ID J:46940]

Genotyping

Genotyping Information

Genotyping Protocols

Irf6Gt(OST398253)Lex, Separated PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Schutte B; Ingraham; Trout; Malik; Kondo; Yang. 2005. Mice that lack Irf6 exhibit skin, limb and craniofacial abnormalities MGI Direct Data Submission :.  [MGI Ref ID J:94918]

Additional References

Irf6Gt(OST398253)Lex related

Biggs LC; Rhea L; Schutte BC; Dunnwald M. 2012. Interferon regulatory factor 6 is necessary, but not sufficient, for keratinocyte differentiation. J Invest Dermatol 132(1):50-8. [PubMed: 21918538]  [MGI Ref ID J:180634]

Goudy S; Angel P; Jacobs B; Hill C; Mainini V; Smith AL; Kousa YA; Caprioli R; Prince LS; Baldwin S; Schutte BC. 2013. Cell-autonomous and non-cell-autonomous roles for IRF6 during development of the tongue. PLoS One 8(2):e56270. [PubMed: 23451037]  [MGI Ref ID J:199408]

Ingraham CR; Kinoshita A; Kondo S; Yang B; Sajan S; Trout KJ; Malik MI; Dunnwald M; Goudy SL; Lovett M; Murray JC; Schutte BC. 2006. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet 38(11):1335-40. [PubMed: 17041601]  [MGI Ref ID J:115343]

Letra A; Fakhouri W; Fonseca RF; Menezes R; Kempa I; Prasad JL; McHenry TG; Lidral AC; Moreno L; Murray JC; Daack-Hirsch S; Marazita ML; Castilla EE; Lace B; Orioli IM; Granjeiro JM; Schutte BC; Vieira AR. 2012. Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate. PLoS One 7(9):e45441. [PubMed: 23029012]  [MGI Ref ID J:192000]

Stottmann RW; Bjork BC; Doyle JB; Beier DR. 2010. Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse. Genesis 48(5):303-8. [PubMed: 20196077]  [MGI Ref ID J:160190]

Zambrowicz BP; Abuin A; Ramirez-Solis R; Richter LJ; Piggott J; BeltrandelRio H; Buxton EC; Edwards J; Finch RA; Friddle CJ; Gupta A; Hansen G; Hu Y; Huang W; Jaing C; Key BW Jr; Kipp P; Kohlhauff B; Ma ZQ; Markesich D; Payne R; Potter DG; Qian N; Shaw J; Schrick J; Shi ZZ; Sparks MJ; Van Sligtenhorst I; Vogel P; Walke W; Xu N; Zhu Q; Person C; Sands AT. 2003. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A 100(24):14109-14. [PubMed: 14610273]  [MGI Ref ID J:86696]

Zambrowicz BP; Friedrich GA; Buxton EC; Lilleberg SL; Person C; Sands AT. 1998. Disruption and sequence identification of 2,000 genes in mouse embryonic stem cells. Nature 392(6676):608-11. [PubMed: 9560157]  [MGI Ref ID J:46940]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX18

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, heterozygous mice may be bred to wildtype (non-carrier) mice from the colony or to C57BL/6J inbred mice (Stock No. 000664). Mice that are homozygous for the targeted mutation are perinatal lethal due to cleft palate, fused oral cavity, and fused esophagus.
Mating SystemWild-type x Heterozygote         (Female x Male)   13-JAN-12
Heterozygote x Wild-type         (Female x Male)   13-JAN-12
Diet Information LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


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

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $232.00Female or MaleHeterozygous for Irf6Gt(OST398253)Lex  
Price per Pair (US dollars $)Pair Genotype
$304.00Heterozygous for Irf6Gt(OST398253)Lex x Wild-type for Irf6Gt(OST398253)Lex  
$304.00Wild-type for Irf6Gt(OST398253)Lex x Heterozygous for Irf6Gt(OST398253)Lex  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $301.60Female or MaleHeterozygous for Irf6Gt(OST398253)Lex  
Price per Pair (US dollars $)Pair Genotype
$395.20Heterozygous for Irf6Gt(OST398253)Lex x Wild-type for Irf6Gt(OST398253)Lex  
$395.20Wild-type for Irf6Gt(OST398253)Lex x Heterozygous for Irf6Gt(OST398253)Lex  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Control Information

  Control
   Heterozygote from the colony
   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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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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