Description

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Background Strain C57BL/6 Donor Strain 129X1 x 129S1 via R1 (+Kitl-SlJ) ES cell line Generation N?+8   Donating Investigator RolfK Kemler,   Max Planck Institute for Immunobiology

Description
Plakoglobin Jup null-mutant embryos die from embryonic day 10.5 onward due to severe heart defects. Some mutant embryos develop further, especially on a C57BL/6 background. These mice die around birth, presumably due to cardiac dysfunction, and with skin blistering and subcorneal acantholysis. The skin phenotype in plakoglobin-deficient mice is reminiscent of the human blistering disease, epidermolytic hyperkeratosis.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Jup

003334

B6.129-Juptm1Ruiz/J

View Strains carrying other alleles of Jup     (1 strain)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

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

Jup^tm1Kem/Jup^tm1Kem

        involves: 129S1/Sv * 129X1/SvJ

• lethality-prenatal/perinatal
• embryonic lethality during organogenesis (MGI Ref ID J:38047)
  • about 50% die between E9.5 and E12.5, with the proportion of dead mutants increasing from E12.5 onward, especially on the 129/Sv background, while some survive longer (to E17.5) on the C57BL/6 background
• embryogenesis phenotype
• small placenta (MGI Ref ID J:38047)
  • small placenta, with little blood supply
• cardiovascular system phenotype
• abnormal blood circulation (MGI Ref ID J:38047)
  • coagulated blood is found in ventricles, atria, and pericardium
• hemopericardium (MGI Ref ID J:38047)
  • coagulated blood is found in the pericardium
• abnormal heart atrium morphology (MGI Ref ID J:38047)
  • poorly developed atrial trabeculae
• abnormal heart development (MGI Ref ID J:38047)
  • heart is structurally less well developed by E10.5 and E112.5
• abnormal endocardial cushion morphology (MGI Ref ID J:38047)
  • poorly developed endocardial cushion
• absent cardiac desmosomes (MGI Ref ID J:38047)
  • at E12.5, hearts show reduced number of desmosomes, less dense plaques, and atypical appearance of desmogleas
• poorly developed ventricular trabeculae (MGI Ref ID J:38047)
• thin myocardial wall (MGI Ref ID J:38047)
  • heart wall is thin and weak
• liver/biliary system phenotype
• small liver (MGI Ref ID J:38047)
  • small liver with a thin liver capsule and little blood supply
• muscle phenotype
• absent cardiac desmosomes (MGI Ref ID J:38047)
  • at E12.5, hearts show reduced number of desmosomes, less dense plaques, and atypical appearance of desmogleas
• poorly developed ventricular trabeculae (MGI Ref ID J:38047)
• thin myocardial wall (MGI Ref ID J:38047)
  • heart wall is thin and weak

View Research Applications

Research Applications

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

Dermatology Research
Skin and Hair Texture Defects

Jup^tm1Kem related

Cardiovascular Research
Heart Abnormalities

Cell Biology Research
Defects in Cell Adhesion Molecules

Developmental Biology Research
Defects in Cell Adhesion Molecules
Embryonic Lethality (Homozygous)
Internal/Organ Defects (heart)

Internal/Organ Research
Heart Abnormalities

Genes & Alleles

Gene & Allele Information

Allele Symbol		Juptm1Kem
Allele Name		targeted mutation 1, Rolf Kemler
Allele Type		Targeted (knock-out)
Common Name(s)		Pg-; plako-;
Mutation Made By		RolfK Kemler,   Max Planck Institute for Immunobiology
Strain of Origin		(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
ES Cell Line Name		R1
ES Cell Line Strain		(129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Gene Symbol and Name		Jup, junction plakoglobin
Chromosome		11
Gene Common Name(s)		AL022715; ARVD12; AW545708; CTNNG; D930025P04Rik; DP3; DPIII; PDGB; PG; PKGB; RIKEN cDNA D930025P04 gene; expressed sequence AL022715; expressed sequence AW545708; gamma-catenin; plakoglobin;
Molecular Note		A neomycin resistance cassette replaced exons 3 and 4 of the gene. [MGI Ref ID J:38047]

Genotyping

Genotyping Information

Genotyping Protocols

Jup^tm1Kem, SEP PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Bierkamp C; Mclaughlin KJ; Schwarz H; Huber O; Kemler R. 1996. Embryonic heart and skin defects in mice lacking plakoglobin. Dev Biol 180(2):780-5. [PubMed: 8954745]  [MGI Ref ID J:38047]

Additional References

Jup^tm1Kem related

Bierkamp C; Schwarz H; Huber O; Kemler R. 1999. Desmosomal localization of beta-catenin in the skin of plakoglobin null-mutant mice. Development 126(2):371-81. [PubMed: 9847250]  [MGI Ref ID J:51129]

Koch U; Wilson A; Cobas M; Kemler R; Macdonald HR; Radtke F. 2008. Simultaneous loss of beta- and gamma-catenin does not perturb hematopoiesis or lymphopoiesis. Blood 111(1):160-4. [PubMed: 17855627]  [MGI Ref ID J:129952]

Yin T; Getsios S; Caldelari R; Kowalczyk AP; Muller EJ; Jones JC; Green KJ. 2005. Plakoglobin suppresses keratinocyte motility through both cell-cell adhesion-dependent and -independent mechanisms. Proc Natl Acad Sci U S A 102(15):5420-5. [PubMed: 15805189]  [MGI Ref ID J:97837]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Induced Mutant Resource Colony collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

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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Ordering and Purchasing Information

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

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In no event shall The Jackson Laboratory, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, products or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.