Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse   Donating Investigator Dr. Richard A. Flavell,   Yale University School of Medicine

Description
Homozygotes are defective in removing apoptotic cells, which accumulate in the lung and brain, causing abnormal development and neonatal lethality. Approximately 15% of the homozygotes manifest a hyperplastic brain phenotype resembling that of mice deficient in other cell death-associated genes. The absence of expression in homozygous mice has been confirmed by Northern blot analysis of embryonic fibroblasts. This strain may be useful in studies of mammalian organogenesis, respiratory distress syndromes and congenital brain malformations.

Development
A targeting vector containing a loxP-flanked neomycin resistance gene was use to replace the first two exons of the gene. The construct was electroporated into 129S6/SvEvTac-derived TC-1 embryonic stem (ES) cells. This strain has been backcrossed to C67BL/6 ten times by the donating laboratory.

Phenotype

Phenotype Information

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.

Jmjd6^tm1Flv/Jmjd6^tm1Flv

        involves: 129S6/SvEvTac * C57BL/6

• mortality/aging
• complete perinatal lethality
  • homozygous embryos present at normal ratios at E17.5   (MGI Ref ID J:86771)
  • homozygous pups are present at birth but die within a few hours   (MGI Ref ID J:86771)
  • no homozygotes survive to day 8   (MGI Ref ID J:86771)
• homeostasis/metabolism phenotype
• abnormal blood homeostasis   (MGI Ref ID J:86771)
• • cyanosis
    • cyanotic skin color at birth   (MGI Ref ID J:86771)
• respiratory system phenotype
• abnormal lung development
  • lungs were never fully expanded   (MGI Ref ID J:86771)
  • apoptotic cells in lungs at birth but no phagocytosis occurring   (MGI Ref ID J:86771)
• respiratory failure
  • newborn mice unable to breathe   (MGI Ref ID J:86771)
• nervous system phenotype
• abnormal brain development
  • 15% of homozygotes display brain dysmorphology   (MGI Ref ID J:86771)
  • show varying structural abnormalities   (MGI Ref ID J:86771)
  • ectopic neuronal proliferation   (MGI Ref ID J:86771)
  • apparent inflammatory respon se in the midbrain, failure to phagocytize apoptotic cells   (MGI Ref ID J:86771)
• • exencephaly   (MGI Ref ID J:86771)

View Research Applications

Research Applications

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

Apoptosis Research

Developmental Biology Research
Internal/Organ Defects
      brain
      lung
Postnatal Lethality

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Jmjd6tm1Flv
Allele Name		targeted mutation 1, Richard A Flavell
Allele Type		Targeted (knock-out)
Common Name(s)		PSR -;
Mutation Made By		Dr. Richard Flavell,   Yale University School of Medicine
Strain of Origin		129S6/SvEvTac
ES Cell Line Name		TC1/TC-1
ES Cell Line Strain		129S6/SvEvTac
Gene Symbol and Name		Jmjd6, jumonji domain containing 6
Chromosome		11
Gene Common Name(s)		5730436I23Rik; D11Ertd195e; DNA segment, Chr 11, ERATO Doi 195, expressed; PSR; PTDSR; PTDSR1; PtdSerR; Ptdsr; RIKEN cDNA 5730436I23 gene; mKIAA0585; phosphatidylserine receptor; phosphatidylserine receptor-pending;
Molecular Note		The first 2 exons were replaced with a neomycin resistance gene. Absence of expression after this gene modification was confirmed by Northern blot analysis. [MGI Ref ID J:86771]

Genotyping

Genotyping Information

Genotyping Protocols

Jmjd6^tm1Flv, Separated PCR

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Li MO; Sarkisian MR; Mehal WZ; Rakic P; Flavell RA. 2003. Phosphatidylserine receptor is required for clearance of apoptotic cells. Science 302(5650):1560-3. [PubMed: 14645847]  [MGI Ref ID J:86771]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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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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