C57BL/6N-Atm1Brd Pthtm1a(EUCOMM)Wtsi/WtsiPh

Status

Available to order

EMMA IDEM:08230
International strain nameC57BL/6N-Atm1Brd Pthtm1a(EUCOMM)Wtsi/WtsiPh
Alternative nameEPD0698_2_A06
Strain typeTargeted Mutant Strains
Allele/Transgene symbolPthtm1a(EUCOMM)Wtsi
Gene/Transgene symbolPth
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 EUCOMM ES clone EPD0698_2_A06. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
ReferencesNone available

Information from EMMA

Archiving centreInstitute of Molecular Genetics, Prague, Czech Republic

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • Familial isolated hypoparathyroidism due to impaired PTH secretion / Orphanet_189466
IMPC phenotypes (allele matching)
  • increased bone mineral density / IMPC
  • decreased circulating calcium level / IMPC
  • abnormal retina morphology / IMPC
IMPC phenotypes (gene matching)
  • abnormal retina morphology / IMPC
  • decreased circulating calcium level / IMPC
  • increased bone mineral density / IMPC
MGI phenotypes (gene matching)
  • abnormal trabecular bone morphology / MGI
  • abnormal cartilage development / MGI
  • abnormal angiogenesis / MGI
  • abnormal cranium morphology / MGI
  • abnormal skeleton development / MGI
  • abnormal bone mineralization / MGI
  • enlarged parathyroid gland / MGI
  • increased width of hypertrophic chondrocyte zone / MGI
  • abnormal bone structure / MGI
  • increased compact bone thickness / MGI
  • short metacarpal bones / MGI
  • short metatarsal bones / MGI
  • small vertebral body / MGI
  • decreased length of long bones / MGI
  • abnormal osteoclast morphology / MGI
  • decreased osteoclast cell number / MGI
  • decreased osteoblast cell number / MGI
  • increased osteoblast apoptosis / MGI
  • increased osteocyte apoptosis / MGI

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

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.

EMMA conditions
Legally binding conditions for the transfer

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