Strain Name:

129S-Porcntm1.1Vdv/J

Stock Number:

020994

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Availability:

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This strain contains floxed exons in the X-linked Porcn gene and may be useful for studying developmental defects associated with Focal dermal hypoplasia (Goltz syndrome).

Description

Strain Information

Type Coisogenic; Mutant Strain; Targeted Mutation;
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Mating SystemHeterozygote x Hemizygote         (Female x Male)   04-APR-13
Specieslaboratory 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. XPorcn-ex3-7flox/XPorcn-ex3-7flox females and XPorcn-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. 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.

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. The resulting in a colony contained XPorcn-ex3-7neo-flox/XPorcn-ex3-7neo-flox females and XPorcn-ex3-7neo-flox/Y males maintained on a 129S background. Offspring were bred with 129S4/SvJaeSor-Gt(ROSA)26Sortm1(FLP1)Dym/J transgenic mice (Stock No. 003946) to delete the neo cassette. Progeny were crossed to remove the Flp-expressing transgene to create XPorcn-ex3-7flox/XPorcn-ex3-7flox females and XPorcn-ex3-7flox/Y males. Upon arrival, mice were bred to 129S1/SvImJ inbred mice (Stock No. 002448) for at least one generation.

Control Information

  Control
   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 relates to a compound genotype created using this strain.
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Porcntm1.1Vdv/Porcn+ Hprttm1(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/body 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)

Porcntm1.1Vdv/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)

Porcntm1.1Vdv/Y 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)

Porcntm1.1Vdv/Y Tg(Prrx1-cre)1Cjt/0

        involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6 * SJL/J   (conditional)
  • growth/size/body phenotype
  • decreased body size
  • postnatal growth retardation
    • become progressively stunted between P7 and P28   (MGI Ref ID J:186934)
  • limbs/digits/tail phenotype
  • brachydactyly   (MGI Ref ID J:186934)
  • short limbs   (MGI Ref ID J:186934)
  • syndactyly
    • soft tissue syndactyly in some mice on both the fore- and hindlimbs   (MGI Ref ID J:186934)
  • skeleton phenotype
  • decreased length of long bones
    • long bones of all extremities and digits are short   (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 (Conditional ready (e.g. floxed), No functional change)
Common Name(s) Porcn-ex3-7flox;
Strain of Origin129S5/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;
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

Genotyping Protocols

Porcntm1.1Vdv, Standard PCR


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           FGB27

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, homozygous mice may be bred together.
Mating SystemHeterozygote x Hemizygote         (Female x Male)   04-APR-13
Diet Information LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $232.00MaleHemizygous for Porcntm1.1Vdv  
$232.00FemaleHeterozygous for Porcntm1.1Vdv  
Individual Mouse $232.00FemaleHomozygous for Porcntm1.1Vdv  
Price per Pair (US dollars $)Pair Genotype
$464.00Heterozygous for Porcntm1.1Vdv x Hemizygous for Porcntm1.1Vdv  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $301.60MaleHemizygous for Porcntm1.1Vdv  
$301.60FemaleHeterozygous for Porcntm1.1Vdv  
Individual Mouse $301.60FemaleHomozygous for Porcntm1.1Vdv  
Price per Pair (US dollars $)Pair Genotype
$603.20Heterozygous for Porcntm1.1Vdv x Hemizygous for Porcntm1.1Vdv  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Control Information

  Control
   002448 129S1/SvImJ (approximate)
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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