B6Brd;B6N-Tyrc-Brd Cldn16tm1a(KOMP)Wtsi/Wtsi

Status

Available to order

EMMA IDEM:12157
International strain nameB6Brd;B6N-Tyrc-Brd Cldn16tm1a(KOMP)Wtsi/Wtsi
Alternative nameEPD0150_2_B12
Strain typeTargeted Mutant Strains
Allele/Transgene symbolCldn16tm1a(KOMP)Wtsi
Gene/Transgene symbolCldn16
DisclaimerPlease note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
  1. We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted.
  2. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure.
  3. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA.
  4. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider Wellcome Trust Sanger Institute
Provider affiliationWellcome Trust Sanger Institute
Genetic informationThis mouse line originates from KOMP ES clone EPD0150_2_B12. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
References
  • Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131
  • A gene expression resource generated by genome-wide lacZ profiling in the mouse.;Tuck Elizabeth, Estabel Jeanne, Oellrich Anika, Maguire Anna Karin, Adissu Hibret A, Souter Luke, Siragher Emma, Lillistone Charlotte, Green Angela L, Wardle-Jones Hannah, Carragher Damian M, Karp Natasha A, Smedley Damian, Adams Niels C, null null, Bussell James N, Adams David J, Ramírez-Solis Ramiro, Steel Karen P, Galli Antonella, White Jacqueline K, ;2015;Disease models & mechanisms;8;1467-78; 26398943

Information from EMMA

Archiving centreWellcome Trust Sanger Institute, Hinxton, United Kingdom
Animals used for archivinghomozygous C57BL/6Brd-Tyr;C57BL/6N

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement / Orphanet_31043
IMPC phenotypes (allele matching)
  • increased circulating calcium level / IMPC
  • increased circulating creatinine level / IMPC
  • increased circulating amylase level / IMPC
  • process of degenerative change / IMPC
  • lipid deposition / IMPC
  • hydronephrosis / IMPC
IMPC phenotypes (gene matching)
  • process of degenerative change / IMPC
  • lipid deposition / IMPC
  • increased circulating amylase level / IMPC
  • hydronephrosis / IMPC
  • increased circulating calcium level / IMPC
  • increased circulating creatinine level / IMPC
MGI phenotypes (gene matching)
  • increased circulating parathyroid hormone level / MGI
  • increased urine calcium level / MGI
  • decreased urine pH / MGI
  • decreased circulating magnesium level / MGI
  • abnormal renal reabsorbtion / MGI
  • abnormal renal calcium reabsorbtion / MGI
  • abnormal vitamin D level / MGI

Literature references

  • Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131
  • A gene expression resource generated by genome-wide lacZ profiling in the mouse.;Tuck Elizabeth, Estabel Jeanne, Oellrich Anika, Maguire Anna Karin, Adissu Hibret A, Souter Luke, Siragher Emma, Lillistone Charlotte, Green Angela L, Wardle-Jones Hannah, Carragher Damian M, Karp Natasha A, Smedley Damian, Adams Niels C, null null, Bussell James N, Adams David J, Ramírez-Solis Ramiro, Steel Karen P, Galli Antonella, White Jacqueline K, ;2015;Disease models & mechanisms;8;1467-78; 26398943

Information on how we integrate external resources can be found here

Register interest

Availabilities

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    Practical information

    Example health report
    (Current health report will be provided later)

    Material Transfer Agreement (MTA)
    Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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    Legally binding conditions for the transfer

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