C57BL/6N-A^tm1Brd Pth^{tm1a(EUCOMM)Wtsi}/WtsiPh

Status	Available to order
EMMA ID	EM:08230
Citation information	RRID:IMSR_EM:08230 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C57BL/6N-A^tm1Brd Pth^{tm1a(EUCOMM)Wtsi}/WtsiPh
Alternative name	EPD0698_2_A06
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Pth^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Pth
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: 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. 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. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. 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 affiliation	Wellcome Trust Sanger Institute
Genetic information	This 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 information	Potential phenotyping data in the IMPC portal
References	None available

Information from EMMA

Archiving centre	Institute 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.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), service fee and delivery time available upon request

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