B6.129S5-Irf6^{Gt(OST398253)Lex}/J

Stock number: 016902
Research areas: Developmental Biology Research, Endocrine Deficiency Research, Internal/Organ Research

Description

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.

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.

Allele

Symbol: Irf6^{Gt(OST398253)Lex}
Name: gene trap OST398253, Lexicon Genetics
MGI accession ID: MGI:3522096
Generation method: Gene trapped
Attributes: Reporter; Null/Knockout
Marker symbol: Irf6
Marker name: interferon regulatory factor 6
Chromosome: 1
Strain of origin: 129S5/SvEvBrd
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.
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.