Description

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Background Strain C57BL/6 Generation N?+3   Donating Investigator Patricia Ruiz,   Max-Planck Inst for Molecular Genetics

Description
Plakoglobin (gamma catenin) is a constituent of the cytoplasmic plaque of desmosomes as well as of other adhering cell junctions, and is involved in anchorage of cytoskeletal filaments to specific cadherins. Homozygous null mutant animals die between days 12 - 16 of embryogenesis due to defects in heart function. The tissue instability correlates with absence of desmosomes in the heart.

Development
A large part of exon and the following intronic sequences and the 5' region of exon 4 were replaced by a neomycin gene cassette inserted in the same transcriptional orientation. A herpes simplex virus midine kinase gene cassette was inserted at the 3' end of the construct.

Related Strains

Strains carrying other alleles of Jup

003360

B6.129-Juptm1Kem/J

View Strains carrying other alleles of Jup     (1 strain)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Naxos Disease - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

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^tm1Ruiz/Jup^tm1Ruiz

        involves: 129P2/OlaHsd * C57BL/6

• lethality-prenatal/perinatal
• lethality throughout fetal growth and development (MGI Ref ID J:64280)
  • death between E12 and E16, although a few survive to E16-E18; these are swollen and covered with edemas and have blood retention in kidney and liver
• embryogenesis phenotype
• abnormal spongiotrophoblast layer morphology (MGI Ref ID J:64280)
  • spongiotrophoblast of the placenta is reduced in size and poorly supplied with blood
• embryonic growth retardation (MGI Ref ID J:64280)
  • evident beginning at E12
• growth/size phenotype
• embryonic growth retardation (MGI Ref ID J:64280)
  • evident beginning at E12
• cardiovascular system phenotype
• abnormal blood circulation (MGI Ref ID J:64280)
  • blood supply, particularly of liver and placenta, is reduced
• hemopericardium (MGI Ref ID J:64280)
  • pericardial cavities are freqently swollen and filled with blood
• abnormal cardiac muscle contractility (MGI Ref ID J:64280)
  • amplitude of heart contraction is strongly reduced
• abnormal heart morphology (MGI Ref ID J:64280)
  • heart rupture in the ventricles
• abnormal intercalated disc morphology (MGI Ref ID J:64280)
  • morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions
• absent cardiac desmosomes (MGI Ref ID J:64280)
  • desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis
• hemopericardium (MGI Ref ID J:64280)
  • pericardial cavities are freqently swollen and filled with blood
• increased heart rate (MGI Ref ID J:64280)
• muscle phenotype
• abnormal cardiac muscle contractility (MGI Ref ID J:64280)
  • amplitude of heart contraction is strongly reduced
• abnormal intercalated disc morphology (MGI Ref ID J:64280)
  • morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions
• absent cardiac desmosomes (MGI Ref ID J:64280)
  • desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis
• skin/coat/nails phenotype
• pallor (MGI Ref ID J:64280)
  • pale due to decreased blood flow to liver and placenta
• liver/biliary system phenotype
• abnormal liver morphology (MGI Ref ID J:64280)
  • at P14, liver parenchyme shows intital signs of deterioration

View Research Applications

Research Applications

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

Jup^tm1Ruiz 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		Juptm1Ruiz
Allele Name		targeted mutation 1, Patricia Ruiz
Allele Type		Targeted (knock-out)
Common Name(s)		plakoglobin-;
Mutation Made By		Patricia Ruiz,   Max-Planck Inst for Molecular Genetics
Strain of Origin		129P2/OlaHsd
ES Cell Line Name		E14.1
ES Cell Line Strain		129P2/OlaHsd
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 a large part of exon 3, the following intronic sequences, and the 5' region of exon 4 of the gene, encoding amino acids 70 - 160. Northern and Western blots on E11.5 embryos showed no mRNA and protein, respectively, of the targeted gene. [MGI Ref ID J:64280]

Genotyping

Genotyping Information

Genotyping Protocols

Jup^tm1Ruiz, STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Ruiz P; Brinkmann V; Ledermann B; Behrend M; Grund C; Thalhammer C; Vogel F; Birchmeier C; Gunthert U; Franke WW; Birchmeier W. 1996. Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol 135(1):215-25. [PubMed: 8858175]  [MGI Ref ID J:64280]

Additional References

Jup^tm1Ruiz related

Kirchhof P; Fabritz L; Zwiener M; Witt H; Schafers M; Zellerhoff S; Paul M; Athai T; Hiller KH; Baba HA; Breithardt G; Ruiz P; Wichter T; Levkau B. 2006. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation 114(17):1799-806. [PubMed: 17030684]  [MGI Ref ID J:126374]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

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.

General Terms and Conditions

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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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