Porcn^tm1.1Vdv
Targeted Allele Detail

Summary

• Symbol: Porcn^tm1.1Vdv
• Name: porcupine O-acyltransferase; targeted mutation 1.1, Ignatia B Van den Veyver
• MGI ID: MGI:5435556
• Synonyms: Porcn-ex3-7flox
• Gene: Porcn Location: ChrX:8060087-8072764 bp, - strand Genetic Position: ChrX, 3.7 cM
• Alliance: Porcn^tm1.1Vdv page

Skeletal abnormalities in Porcn^tm1.1Vdv/Y Tg(Prrx1-cre)1Cjt/0 mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:186934
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S5/SvEvBrd

Mutation description

Allele Type: Targeted (Conditional ready, No functional change) Mutation: Insertion Mutation details: A loxP site was inserted upstream of exon 3 and a loxP site and FRT flanked neo cassette were inserted downstream of exon 7. Flp mediated recombination removed the neo cassette. (J:186934)

Generation of Porcn targeted alleles

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Porcn Mutation: 18 strains or lines available

References

• Original: J:186934 Liu W, et al., Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS One. 2012;7(3):e32331
• All: 6 reference(s)