Porcn^tm1.1Lcm
Targeted Allele Detail

Summary

• Symbol: Porcn^tm1.1Lcm
• Name: porcupine O-acyltransferase; targeted mutation 1.1, Lewis Murtaugh
• MGI ID: MGI:4429133
• Synonyms: Porcn-2lox, Porcn-lox
• Gene: Porcn Location: ChrX:8060087-8072764 bp, - strand Genetic Position: ChrX, 3.7 cM
• Alliance: Porcn^tm1.1Lcm page

Focal dermal hypoplasia-like phenotypes in Porcn^tm1.1Lcm/Porcn⁺ Edil3^{Tg(Sox2-cre)1Amc}/0 embryos

Show the 4 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:173672
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

Allele Type: Targeted (Conditional ready, No functional change) Mutation: Insertion Mutation details: LoxP sites were introduced into the first and third introns, permitting deletion of exons 2-3 by Cre recombinase. Flp-mediated recombination removed the FRT-flanked neo cassette inserted into the first intron. (J:173672)

Derivation of Porcn^tm1.1Lcm mutant allele

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	16 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Porcn Mutation: 18 strains or lines available

References

• Original: J:173672 Barrott JJ, et al., Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):12752-7
• All: 7 reference(s)