Description

Strain Information

Type Coisogenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System Heterozygote x Hemizygote         (Female x Male)   04-APR-13 Species laboratory mouse Generation ?pN1+ (04-APR-13) Generation Definitions   Donating Investigator Ignatia B. Van den Veyver,   Baylor College of Medicine

Description
These Porcn-ex3-7flox mutant mice possess loxP sites flanking exons 3-7 of the X-linked porcupine homolog (Porcn) gene. X^{Porcn-ex3-7flox}/X^{Porcn-ex3-7flox} females and X^{Porcn-ex3-7flox}/Y males are viable and fertile. PORCN encodes an endoplasmic reticulum protein involved in wingless-related MMTV (Wnt) signaling and has an essential role in gastrulation during early embryonic development. Dominant loss-of-function mutations in PORNC have been associated with focal dermal hypoplasia (FDH), also known as Goltz syndrome or Goltz-Gorlin syndrome, an X-linked disorder that predominantly affects females. FDH is characterized by a wide array of abnormalities including defects of skeleton, skin, hair, eyes, ears, and ectodermal appendages. These floxed-Porcn mice are viable and fertile. When bred to mice that express Cre recombinase, resulting offspring will have exons 3-7 deleted in the cre-expressing tissues. Widespread deletion results in increased early embryonic lethality.

When bred to B6.Cg-Tg(Prrx1-cre)1Cjt/J mice (Stock No. 005584), mesenchyme-specific cre-expression results in mice exhibiting FDH-like limb shortening. Defects were more severe in forelimbs.

When bred to Tg(KRT14-cre/ERT)20Efu mice (see Stock No. 005107), ectoderm-specific cre-expression results in mice exhibiting thin skin, alopecia, and abnormal dentition.

When bred to Tg(EIIa-cre)C5379Lmgd mice (Stock No. 003724), expression in the early mouse embryo results in partial lethality and decreased hairgrowth.

When bred to Hprt^tm1(cre)Mnn mice (Stock No. 004302), oocyte-specific cre-expression results in mice exhibiting multiple growth defects including an open neural tube.

Development
A targeting vector was designed to insert a loxP site upstream of exon 3, and a second loxP site followed by a frt-flanked neomycin resistance (neo) cassette downstream of exon 7, of the X-linked porcupine homolog (Porcn) gene. The construct was electroporated into 129S5/SvEvBrd-derived embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts and resulting chimeric males were bred to 129S females. Offspring were bred with 129S4/SvJaeSor-Gt(ROSA)26Sor^tm1(FLP1)Dym/J transgenic mice (Stock No. 003946) to delete the neo cassette, and progeny were crossed to remove the Flp-expressing transgene. The resulting in a colony contained X^{Porcn-ex3-7flox}/X^{Porcn-ex3-7flox} females and X^{Porcn-ex3-7flox}/Y males maintained on a 129S background. Upon arrival, mice were bred to 129S1/SvImJ inbred mice (Stock No. 002448) for at least one generation.

Control Information

	Control
	Wild-type from the colony
	002448 129S1/SvImJ	(approximate)
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Focal Dermal Hypoplasia; FDH

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Porcn^tm1.1Vdv/Porcn⁺ Tg(EIIa-cre)C5379Lmgd/0

        involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N   (conditional)

• mortality/aging
• partial prenatal lethality
  • out of 13 litters only 3 males were recovered and these had a low level of mosaicism   (MGI Ref ID J:186934)
• integument phenotype
• abnormal hair growth
  • decreased hair growth in survivors   (MGI Ref ID J:186934)

The following phenotype relates to a compound genotype created using this strain.
Contact JAX^® Services jaxservices@jax.org for customized breeding options.

Porcn^tm1.1Vdv/Porcn⁺ Hprt^tm1(cre)Mnn/Hprt⁺

        involves: 129S/Sv * C57BL/6J   (conditional)

• mortality/aging
• complete prenatal lethality   (MGI Ref ID J:186934)
• partial embryonic lethality during organogenesis
  • most die before E12.5   (MGI Ref ID J:186934)
• embryogenesis phenotype
• caudal body truncation
  • axial/tail truncation in most embryos   (MGI Ref ID J:186934)
• embryonic growth retardation
  • become progressively smaller compared to wild-type controls   (MGI Ref ID J:186934)
• open neural tube
  • in most embryos   (MGI Ref ID J:186934)
• growth/size phenotype
• abnormal ventral body wall morphology
  • defects in ventral body wall closure in most embryos   (MGI Ref ID J:186934)
• embryonic growth retardation
  • become progressively smaller compared to wild-type controls   (MGI Ref ID J:186934)
• nervous system phenotype
• open neural tube
  • in most embryos   (MGI Ref ID J:186934)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Developmental Biology Research
Eye Defects
Internal/Organ Defects
      skin

Endocrine Deficiency Research
Skin Defects

Internal/Organ Research
Skeleton
      Bone
      teeth

Research Tools
Cre-lox System
      loxP-flanked Sequences

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Porcntm1.1Vdv
Allele Name		targeted mutation 1.1, Ignatia B Van den Veyver
Allele Type		Targeted (Floxed/Frt)
Common Name(s)		Porcn-ex3-7flox;
Strain of Origin		129S5/SvEvBrd
Gene Symbol and Name		Porcn, porcupine homolog (Drosophila)
Chromosome		X
Gene Common Name(s)		2410004O13Rik; AW045557; DHOF; DNA segment, Chr X, human S7465E, expressed; DXHXS7465e; FODH; MG61; Mporc; PORC; PPN; RGD1564947; RIKEN cDNA 2410004O13 gene; expressed sequence AW045557; mMg61; por;
Molecular Note		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. [MGI Ref ID J:186934]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Liu W; Shaver TM; Balasa A; Ljungberg MC; Wang X; Wen S; Nguyen H; Van den Veyver IB. 2012. Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS One 7(3):e32331. [PubMed: 22412863]  [MGI Ref ID J:186934]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB29

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, homozygous mice may be bred together.
Mating System	Heterozygote x Hemizygote         (Female x Male)   04-APR-13

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

 

This strain is currently Under Development - Now Accepting Orders.
Estimated Available for Distribution Date: 05-AUG-13

Please note: You may now place orders for this strain although it is not yet ready for distribution. Estimated available for distribution dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for distribution depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain.

Control Information

	Control
	Wild-type from the colony
	002448 129S1/SvImJ	(approximate)
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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