These Porcn-ex3-7flox mutant mice possess loxP sites flanking exons 3-7 of the X-linked porcupine homolog (Porcn) gene. XPorcn-ex3-7flox/XPorcn-ex3-7flox females and XPorcn-ex3-7flox/Y males are viable and fertile. PORCN encodes an endoplasmic reticulum protein involved in wingless-related MMTV (Wnt) signaling and has an essential role in gastrulation during early embryonic development. Dominant loss-of-function mutations in PORNC have been associated with focal dermal hypoplasia (FDH), also known as Goltz syndrome or Goltz-Gorlin syndrome, an X-linked disorder that predominantly affects females. FDH is characterized by a wide array of abnormalities including defects of skeleton, skin, hair, eyes, ears, and ectodermal appendages. When bred to mice that express Cre recombinase, resulting offspring will have exons 3-7 deleted in the cre-expressing tissues. Widespread deletion results in increased early embryonic lethality.

When bred to B6.Cg-Tg(Prrx1-cre)1Cjt/J mice (Stock No. <a href="https://www.jax.org/strain/005584">005584</a>), mesenchyme-specific cre-expression results in mice exhibiting FDH-like limb shortening. Defects were more severe in forelimbs.

When bred to Tg(EIIa-cre)C5379Lmgd mice (Stock No. <a href="https://www.jax.org/strain/003724">003724</a>), expression in the early mouse embryo results in partial lethality and decreased hairgrowth.

This strain contains floxed exons in the X-linked Porcn gene and may be useful for studying developmental defects associated with Focal dermal hypoplasia (Goltz syndrome).

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

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