Overview

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.

Donating Investigator

David Beier, Harvard

Genetic overview

Genetic Background	Generation

Irf6^clft1

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU) (Hypomorph)	Irf6	interferon regulatory factor 6

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Research Applications

Developmental Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed 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 Suggestions

Wild-type from the colony

Approximate Controls

001800 FVB/NJ

Additional Information

Considerations for Choosing Controls

Selected References

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):303-8PubMed: 20196077 MGI: J:160190

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Genetics

Irf6^clft1

Allele Symbol: Irf6^clft1

Allele Name	cleft palate 1
Allele Type	Chemically induced (ENU) (Hypomorph)
Allele Synonym(s)
Gene Symbol and Name	Irf6, interferon regulatory factor 6
Gene Synonym(s)
Strain of Origin	A/J
Chromosome	1
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.
Mutations Made By	David Beier, Harvard

Disease/Phenotype

Disease Terms

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

Research Areas By Phenotype

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

Developmental Biology Research
- Craniofacial and Palate Defects
  - congenital cleft palate
- Skeletal 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^clft1/Irf6^clft1
involves: A/J * FVB

craniofacial phenotype

abnormal mouth morphology
- at E18.5, mice exhibit aberrant epithelial adhesions throughout the oral cavity unlike wild-type mice
- at E18.5, mouths cannot be opened unlike in wild-type mice
- at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

abnormal palatine bone horizontal plate morphology

abnormal tongue morphology
- at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

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

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

palatal shelf fusion with tongue or mandible
- at E16.5, inferior aspects of the anterior secondary palate are fused to the dorsal tongue unlike in wild-type mice
- at E16.5, the tongue is fused to the palate shelves at the mid-palatal region unlike in wild-type mice
- however, mice exhibit normal elevation and fusion anteriorly

digestive/alimentary phenotype

abnormal palatine bone horizontal plate morphology

abnormal tongue morphology
- at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

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

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

palatal shelf fusion with tongue or mandible
- at E16.5, inferior aspects of the anterior secondary palate are fused to the dorsal tongue unlike in wild-type mice
- at E16.5, the tongue is fused to the palate shelves at the mid-palatal region unlike in wild-type mice
- however, mice exhibit normal elevation and fusion anteriorly

growth/size/body region phenotype

abnormal mouth morphology
- at E18.5, mice exhibit aberrant epithelial adhesions throughout the oral cavity unlike wild-type mice
- at E18.5, mouths cannot be opened unlike in wild-type mice
- at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

abnormal palatine bone horizontal plate morphology

abnormal tongue morphology
- at E18.5, the tongue adheres to the roof of the mouth unlike in wild-type mice

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

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

palatal shelf fusion with tongue or mandible
- at E16.5, inferior aspects of the anterior secondary palate are fused to the dorsal tongue unlike in wild-type mice
- at E16.5, the tongue is fused to the palate shelves at the mid-palatal region unlike in wild-type mice
- however, mice exhibit normal elevation and fusion anteriorly

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
- Normal - however, mice exhibit normal skin barrier function by E18.5

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

abnormal hindlimb morphology
- between E16.5 and E18.5, 1 of 31 mice exhibits hindlimbs fused to the body unlike wild-type mice

curly tail
- between E16.5 and E18.5, 1 of 31 mice exhibits very short forelimbs and a curly tail unlike wild-type mice

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

short limbs
- between E16.5 and E18.5, 1 of 31 mice exhibits very short forelimbs and a curly tail unlike wild-type mice

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

skeleton phenotype

abnormal palatine bone horizontal plate morphology

abnormal skeleton morphology
- between E16.5 and E18.5, 4 of 31 mice exhibit skeletal abnormalities compared with wild-type mice

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

References

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):303-8PubMed: 20196077 MGI: J:160190

Additional - Irf6^clft1 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Irf6
- Genotyping resources and troubleshooting
Breeding Considerations

While maintaining a live colony, these mice are bred as heterozygotes. Mice homozygous for the mutation are not viable.
- Additional Breeding and Husbandry Support
Citation
When using the FVB.A-Irf6^clft1/BeiJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #012655 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/Product	Description	Price
	Heterozygous and wildtype for Irf6<clft1>

Related Products and Services

Frozen Mouse Embryo	FVB.A-Irf6<clft1>/BeiJ Frozen Embryo	$2595.00
Frozen Mouse Embryo	FVB.A-Irf6<clft1>/BeiJ Frozen Embryo	$2595.00
Frozen Mouse Embryo	FVB.A-Irf6<clft1>/BeiJ Frozen Embryo	$3373.50
Frozen Mouse Embryo	FVB.A-Irf6<clft1>/BeiJ Frozen Embryo	$3373.50

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Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Selected References

Irf6clft1

Allele Symbol: Irf6clft1

Disease Terms

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).

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Irf6clft1/Irf6clft1involves: A/J * FVB

craniofacial phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

integument phenotype

limbs/digits/tail phenotype

skeleton phenotype

References

Additional - Irf6clft1 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

Additional Use Restrictions Apply

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^clft1

Allele Symbol: Irf6^clft1

Genotype: Irf6^clft1/Irf6^clft1
involves: A/J * FVB

Additional - Irf6^clft1 related