Strain Name:

FVB.A-Irf6clft1/BeiJ

Stock Number:

012655

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This mutation of interferon regulatory factor 6 (Irf6) gene displays abnormal adhesion between the tongue and palate and may be useful studies of cleft palate and Van der Woude Syndrome.

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 Chemically Induced Mutation; Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
 
Donating Investigator David Beier,   Harvard

Description
Mice that are homozygous for this hypomorphic allele are characterized by an abnormal adhesion between the tongue and palate. Approximately 63% of E18.5 mutants exhibit a partial fusion of the anterior palate, the remaining mutants exhibit a complete cleft of the secondary palate. Oral adhesions between the palate and tongue are first observed by E12.5. In addition, a small number of mutants exhibit syndactyly, short forelimbs, curly tail, and hind limbs that appear fused to the body. This mutant mouse strain may be useful in studies of cleft palate and Van der Woude Syndrome.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

Development
This missense point mutation was generated by ethylnitrosourea (ENU) mutagenesis in A/J males in the laboratory of Dr. David Beier at Brigham and Women's Hospital. Mutagenized males were outcrossed to FVB/NJ females and descendants of the mutagenized males were selected for craniofacial clefting. The mutation results in a change from proline to leucine at amino acid position 39; the same residue mutated in a family with Van der Woude Syndrome. This strain has been backcrossed to FVB/NJ for a minimum 5 of generations. Upon arrival, mice were bred to FVB/NJ for at least 1 generation to establish the colony.

Control Information

  Control
   Wild-type from the colony
   001800 FVB/NJ (approximate)
 
  Considerations for Choosing Controls

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003865   B6.129S2-Itgavtm1Hyn/J
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022359   B6;129S6-Rr24tm1Axvi/Mmjax
022360   B6;129S6-Rr25tm1Axvi/Mmjax
003277   B6;129S7-Acvr2atm1Zuk/J
002788   B6;129S7-Fsttm1Zuk/J
002990   B6;129S7-Inhbatm1Zuk/J
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View Facebase: models     (61 strains)

Strains carrying other alleles of Irf6
016902   B6.129S5-Irf6Gt(OST398253)Lex/J
View Strains carrying other alleles of Irf6     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Van Der Woude Syndrome 1; VWS1
- 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)
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.

Irf6clft1/Irf6clft1

        involves: A/J * FVB
  • craniofacial phenotype
  • abnormal mouth morphology
    • at E18.5, mouths cannot be opened unlike in wild-type mice   (MGI Ref ID J:160190)
    • at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice   (MGI Ref ID J:160190)
    • at E18.5, mice exhibit aberrant epithelial adhesions throughout the oral cavity unlike wild-type mice   (MGI Ref ID J:160190)
    • abnormal palatine shelf morphology   (MGI Ref ID J:160190)
    • abnormal tongue morphology
      • at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice   (MGI Ref ID J:160190)
    • cleft secondary palate
      • at E18.5, mice exhibit partial fusion of the palate shelves in the anterior or complete cleft of the secondary palate unlike wild-type mice   (MGI Ref ID J:160190)
      • failure of palatal shelf elevation
        • at E14.5, the palate shelves are not elevated and adhere to the sides of the tongue posteriorly while at the mid-palate region the shelves are elevated but tethered by epithelial fusion with the dorso-lateral tongue unlike in wild-type mice   (MGI Ref ID J:160190)
      • palatal shelf fusion with tongue or mandible
        • at E16.5, the tongue is fused to the palate shelves at the mid-palatal region unlike in wild-type mice   (MGI Ref ID J:160190)
        • at E16.5, inferior aspects of the anterior secondary palate are fused to the dorsal tongue unlike in wild-type mice   (MGI Ref ID J:160190)
        • however, mice exhibit normal elevation and fusion anteriorly   (MGI Ref ID J:160190)
  • skeleton phenotype
  • abnormal skeleton morphology
    • between E16.5 and E18.5, 4 of 31 mice exhibit skeletal abnormalities compared with wild-type mice   (MGI Ref ID J:160190)
    • abnormal palatine shelf morphology   (MGI Ref ID J:160190)
    • fused phalanges
      • in 2 of 31 mice between E16.5 and E18.5 with fusion of elements of the third and fourth proximal and intermediate phalanges   (MGI Ref ID J:160190)
  • limbs/digits/tail phenotype
  • abnormal forelimb morphology
    • between E16.5 and E18.5, 1 of 31 mice exhibits very short forelimbs and a curly tail unlike wild-type mice   (MGI Ref ID J:160190)
  • abnormal hindlimb morphology
    • between E16.5 and E18.5, 1 of 31 mice exhibits hindlimbs fused to the body unlike wild-type mice   (MGI Ref ID J:160190)
  • curly tail
    • between E16.5 and E18.5, 1 of 31 mice exhibits very short forelimbs and a curly tail unlike wild-type mice   (MGI Ref ID J:160190)
  • short limbs
    • between E16.5 and E18.5, 1 of 31 mice exhibits very short forelimbs and a curly tail unlike wild-type mice   (MGI Ref ID J:160190)
  • syndactyly
    • in 2 of 31 mice between E16.5 and E18.5 with fusion of elements of the third and fourth proximal and intermediate phalanges   (MGI Ref ID J:160190)
    • fused phalanges
      • in 2 of 31 mice between E16.5 and E18.5 with fusion of elements of the third and fourth proximal and intermediate phalanges   (MGI Ref ID J:160190)
  • digestive/alimentary phenotype
  • abnormal palatine shelf morphology   (MGI Ref ID J:160190)
  • abnormal tongue morphology
    • at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice   (MGI Ref ID J:160190)
  • cleft secondary palate
    • at E18.5, mice exhibit partial fusion of the palate shelves in the anterior or complete cleft of the secondary palate unlike wild-type mice   (MGI Ref ID J:160190)
    • failure of palatal shelf elevation
      • at E14.5, the palate shelves are not elevated and adhere to the sides of the tongue posteriorly while at the mid-palate region the shelves are elevated but tethered by epithelial fusion with the dorso-lateral tongue unlike in wild-type mice   (MGI Ref ID J:160190)
    • palatal shelf fusion with tongue or mandible
      • at E16.5, the tongue is fused to the palate shelves at the mid-palatal region unlike in wild-type mice   (MGI Ref ID J:160190)
      • at E16.5, inferior aspects of the anterior secondary palate are fused to the dorsal tongue unlike in wild-type mice   (MGI Ref ID J:160190)
      • however, mice exhibit normal elevation and fusion anteriorly   (MGI Ref ID J:160190)
  • integument phenotype
  • delayed skin barrier formation
    • at E17.5, mice exhibit variability in the formation of the ventral skin barrier compared with wild-type mice   (MGI Ref ID J:160190)
    • however, mice exhibit normal skin barrier function by E18.5   (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
      congenital cleft palate
Skeletal Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Irf6clft1
Allele Name cleft palate 1
Allele Type Chemically induced (ENU)
Mutation Made By David Beier,   Harvard
Strain of OriginA/J
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;
Molecular Note ENU mutagenesis induced a C to T transition that results in the amino acid substitution of lysine for proline at position 39 (P39K). This allele is hypomorphic. [MGI Ref ID J:160190]

Genotyping

Genotyping Information

Genotyping Protocols

Irf6clft1, Pyrosequencing


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

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]

Additional References

Irf6clft1 related

Stottmann RW; Moran JL; Turbe-Doan A; Driver E; Kelley M; Beier DR. 2011. Focusing Forward Genetics: A Tripartite ENU Screen for Neurodevelopmental Mutations in the Mouse. Genetics 188(3):615-24. [PubMed: 21515572]  [MGI Ref ID J:174027]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & HusbandryWhile maintaining a live colony, these mice are bred as heterozygotes. Mice homozygous for the mutation are not viable.

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* $2085.00
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* $2710.50
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
   Wild-type from the colony
   001800 FVB/NJ (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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"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

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