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Porcntm1.1Vdv
Targeted Allele Detail
Nomenclature
Symbol: Porcntm1.1Vdv
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
Skeletal abnormalities in Porcntm1.1Vdv/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 detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
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:  17 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory