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.
David Beier, Harvard
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.
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.
|Allele Name||cleft palate 1|
|Allele Type||Chemically induced (ENU) (Hypomorph)|
|Gene Symbol and Name||Irf6, interferon regulatory factor 6|
|Strain of Origin||A/J|
|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
While maintaining a live colony, these mice are bred as heterozygotes. Mice homozygous for the mutation are not viable.
When using the FVB.A-Irf6clft1/BeiJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #012655 in your Materials and Methods section.