Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Porcntm1Vdv Name: porcupine O-acyltransferase; targeted mutation 1, Ignatia B Van den Veyver MGI ID: MGI:5435555 Synonyms: Porcn-ex3-7Neo-flox Gene: Porcn  Location: ChrX:8060087-8072764 bp, - strand  Genetic Position: ChrX, 3.7 cM Alliance: Porcntm1Vdv page

Digit, vertebral, kidney, and reproductive system abnormalities in Porcntm1Vdv/Y and Porcntm1Vdv/Porcn+ chimeras Show the 1 phenotype image(s) involving this allele.

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

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. (J:186934)

Generation of Porcn targeted alleles

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

6 anatomical structure(s)

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

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:	1 reference(s)