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Targeted Allele Detail
Symbol: Porcntm1.1Lcm
Name: porcupine O-acyltransferase; targeted mutation 1.1, Lewis Murtaugh
MGI ID: MGI:4429133
Synonyms: Porcn-2lox, Porcn-lox
Gene: Porcn  Location: ChrX:8193848-8206525 bp, - strand  Genetic Position: ChrX, 3.7 cM
Focal dermal hypoplasia-like phenotypes in Porcntm1.1Lcm/Porcn+ Edil3Tg(Sox2-cre)1Amc/0 embryos

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

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+
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
Mutation detailsLoxP 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 Porcntm1.1Lcm mutant allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 10 anatomical structures
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:  14 strains or lines available
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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.13
The Jackson Laboratory