Overview

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.

Donating Investigator

Brian Schutte, Michigan State University

Genetic overview

Genetic Background	Generation

Irf6^{Gt(OST398253)Lex}

Allele Type	Gene Symbol	Gene Name
Gene trapped	Irf6	interferon regulatory factor 6

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Research Applications

Developmental Biology Research
Internal/Organ Research
Endocrine Deficiency Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed 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. Heterozygous embryos have oral adhesions between epithelial layers of the maxilla and mandible that are incompletely penetrant. These oral adhesions are transient, as they are more common at E13.5 than E17.5, and do not impede subsequent orofacial development in the C57BL/6 background.

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 Suggestions

Heterozygote from the colony
Wild-type from the colony

Approximate Controls

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

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

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Genetics

Irf6^{Gt(OST398253)Lex}

Allele Symbol: Irf6^{Gt(OST398253)Lex}

Allele Name	gene trap OST398253, Lexicon Genetics
Allele Type	Gene trapped
Allele Synonym(s)	Irf6^{Gt(OST398253)Lex}; gene trap OST398253, Lexicon Genetics
Gene Symbol and Name	Irf6, interferon regulatory factor 6
Gene Synonym(s)	E230028I05Rik; E230028I05Rik; AI876454; VWS; VWS1; LPS; OFC6; PPS; PPS1; PIT; RIKEN cDNA E230028I05 gene; expressed sequence AI876454
Strain of Origin	129S5/SvEvBrd
Chromosome	1
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.
Mutations Made By	Brian Schutte, Michigan State University

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Developmental Biology Research
- Skeletal Defects
  - truncated forelimbs, no hind limbs
- Perinatal Lethality
  - Homozygous
- Craniofacial and Palate Defects
  - cleft palate and cleft lip
Internal/Organ Research
- Skeleton
  - Bone
Endocrine Deficiency Research
- Skin Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Irf6^{Gt(OST398253)Lex}/Irf6^{Gt(OST398253)Lex}
involves: 129S5/SvEvBrd

craniofacial phenotype

failure of palatal shelf elevation
- the palate shelves fail to elevate

palatal shelf fusion with tongue or mandible
- the palate shelves adhere completely to the tongue

digestive/alimentary phenotype

failure of palatal shelf elevation
- the palate shelves fail to elevate

palatal shelf fusion with tongue or mandible
- the palate shelves adhere completely to the tongue

growth/size/body region phenotype

failure of palatal shelf elevation
- the palate shelves fail to elevate

palatal shelf fusion with tongue or mandible
- the palate shelves adhere completely to the tongue

integument phenotype

abnormal skin development
- abnormalities in proliferation and differentiation of keratinocytes
- abnormalities in size and shape of keratinocytes

Genotype: Irf6^{Gt(OST398253)Lex}/Irf6⁺
involves: 129S5/SvEvBrd * C57BL/6

craniofacial phenotype

abnormal craniofacial development
- bilateral oral adhesions (which have a loss of periderm) at the tooth germ sites are seen at E13.5
- expression of p63 is reduced, indicating loss of basal epithelial cells at sites of the oral fusions
- oral adhesions occur most frequently between the mandible and maxilla

embryo phenotype

abnormal periderm development
- expression of Krt6, a marker for the periderm, is reduced, indicating loss of oral periderm cells

References

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

Additional - Irf6^{Gt(OST398253)Lex} related

Technical Support

Contact Technical Support

Genotyping Protocols
- Separated PCR:Irf6^{Gt(OST398253)Lex}
- Genotyping resources and troubleshooting
Breeding Considerations

When 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.
- Additional Breeding and Husbandry Support
Citation
When using the B6.129S5-Irf6^{Gt(OST398253)Lex}/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #016902 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous or wildtype for Irf6<Gt(OST398253)Lex>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We 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.

Related Products and Services

Frozen Mouse Embryo	B6.129S5-Irf6<Gt(OST398253)Lex>/J	$2595.00
Frozen Mouse Embryo	B6.129S5-Irf6<Gt(OST398253)Lex>/J	$2595.00
Frozen Mouse Embryo	B6.129S5-Irf6<Gt(OST398253)Lex>/J	$3373.50
Frozen Mouse Embryo	B6.129S5-Irf6<Gt(OST398253)Lex>/J	$3373.50

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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.

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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Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

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Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Selected References

Irf6Gt(OST398253)Lex

Allele Symbol: Irf6Gt(OST398253)Lex

Disease Terms

Research Areas By Genotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Irf6Gt(OST398253)Lex/Irf6Gt(OST398253)Lexinvolves: 129S5/SvEvBrd

craniofacial phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

integument phenotype

Genotype: Irf6Gt(OST398253)Lex/Irf6+involves: 129S5/SvEvBrd * C57BL/6

craniofacial phenotype

embryo phenotype

References

Additional - Irf6Gt(OST398253)Lex related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Irf6^{Gt(OST398253)Lex}

Allele Symbol: Irf6^{Gt(OST398253)Lex}

Genotype: Irf6^{Gt(OST398253)Lex}/Irf6^{Gt(OST398253)Lex}
involves: 129S5/SvEvBrd

Genotype: Irf6^{Gt(OST398253)Lex}/Irf6⁺
involves: 129S5/SvEvBrd * C57BL/6

Additional - Irf6^{Gt(OST398253)Lex} related