C57BL/6N-Pdss2^{tm1a(EUCOMM)Hmgu}/H

Status	Available to order
EMMA ID	EM:09324
International strain name	C57BL/6N-Pdss2^{tm1a(EUCOMM)Hmgu}/H
Alternative name	HEPD0711_7_A08
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Pdss2^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Pdss2
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	MRC, Medical Research Council
Provider affiliation	Mary Lyon Centre at MRC Harwell
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0711_7_A08. 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	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Leigh syndrome with nephrotic syndrome / Orphanet_255249

IMPC phenotypes (gene matching)

decreased anxiety-related response / IMPC
abnormal tooth morphology / IMPC
embryonic lethality prior to tooth bud stage / IMPC
preweaning lethality, complete penetrance / IMPC
embryonic lethality prior to organogenesis / IMPC
vertebral fusion / IMPC
increased total body fat amount / IMPC
increased circulating bilirubin level / IMPC
cataract / IMPC
thrombocytopenia / IMPC
decreased thigmotaxis / IMPC

MGI phenotypes (gene matching)

myopathy / MGI
weight loss / MGI
polydipsia / MGI
hunched posture / MGI
premature death / MGI
abnormal kidney morphology / MGI
dilated renal tubules / MGI
albuminuria / MGI
no phenotypic analysis / MGI
renal interstitial fibrosis / MGI
oxidative stress / MGI
kidney cysts / MGI
pale kidney / MGI
kidney atrophy / MGI
glomerulosclerosis / MGI
abnormal enzyme/coenzyme level / MGI
abnormal renal glomerulus morphology / MGI
abnormal podocyte morphology / MGI
renal/urinary system phenotype / MGI
homeostasis/metabolism phenotype / MGI
abnormal mitochondrion morphology / MGI
podocyte foot process effacement / MGI
abnormal cellular respiration / MGI
abnormal respiratory electron transport chain / MGI
abnormal mitochondrial ATP synthesis coupled electron transport / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
renal tubule atrophy / MGI
abnormal renal glomerulus basement membrane morphology / MGI
renal cast / MGI
tubulointerstitial nephritis / MGI
colorless urine / MGI
abnormal glomerular capsule parietal layer morphology / MGI
granular kidney / MGI
abnormal mitochondrial chromosome morphology / MGI
decreased mitochondrial DNA content / MGI

Information on how we integrate external resources can be found here

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
Tissue - Types of tissue, 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)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

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