B6N.129-Pkd2^tm1Dwo/Cnrm

Status	Available to order
EMMA ID	EM:02475
Citation information	RRID:IMSR_EM:02475 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	B6N.129-Pkd2^tm1Dwo/Cnrm
Alternative name	B6N-Pkd2LacZ (Pkd2)
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Pkd2^tm1Dwo
Gene/Transgene symbol	Pkd2

Information from provider

Provider	Bernd Dworniczak
Provider affiliation	University Clinics Muenster
Genetic information	Exon 1 and a portion of intron 1 were replaced with a cassette containing lacZ and PGK-neo. Transcript was undetected in homozygous mutant embryos at E16.5 by Northern blot analysis.
Phenotypic information	Homozygous mutants: prenatal lethal, whole body edema and focal bleedings; cardiovascular defects include septation, the outflow tract, trabecularization, and the formation of the myocardial wall; heterotaxy; cyst development in pancreas and kidney.
Breeding history	Backcrossed to C57BL/6N, 14th generation.
References	The ion channel polycystin-2 is required for left-right axis determination in mice.;Pennekamp Petra, Karcher Christina, Fischer Anja, Schweickert Axel, Skryabin Boris, Horst Jürgen, Blum Martin, Dworniczak Bernd, ;2002;Current biology : CB;12;938-43; 12062060 Characterization of the murine polycystic kidney disease (Pkd2) gene.;Pennekamp P, Bogdanova N, Wilda M, Markoff A, Hameister H, Horst J, Dworniczak B, ;1998;Mammalian genome : official journal of the International Mammalian Genome Society;9;749-52; 9716661
Homozygous fertile	no
Homozygous viable	no
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

polycystic kidney disease 2 / DOID:0110859

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal dominant polycystic kidney disease / Orphanet_730

MGI phenotypes (allele matching)

abnormal heart development / MGI
abnormal heart looping / MGI
kidney cortex cysts / MGI
abnormal liver development / MGI
absent spleen / MGI
abnormal lung development / MGI
abnormal left-right axis patterning / MGI
hemorrhage / MGI
abnormal pancreas morphology / MGI
hydrops fetalis / MGI
situs inversus / MGI
situs ambiguus / MGI
pancreas cysts / MGI
kidney cysts / MGI
abnormal direction of embryo turning / MGI
embryonic lethality during organogenesis, complete penetrance / MGI

MGI phenotypes (gene matching)

abnormal heart development / MGI
abnormal heart looping / MGI
kidney cortex cysts / MGI
right pulmonary isomerism / MGI
abnormal liver development / MGI
abnormal liver morphology / MGI
enlarged liver / MGI
dextrocardia / MGI
mesocardia / MGI
absent spleen / MGI
abnormal lung development / MGI
distended abdomen / MGI
abnormal left-right axis patterning / MGI
postnatal growth retardation / MGI
edema / MGI
hemorrhage / MGI
abnormal pancreas morphology / MGI
premature death / MGI
abnormal kidney morphology / MGI
no abnormal phenotype detected / MGI
hydrops fetalis / MGI
dilated renal tubules / MGI
situs inversus / MGI
situs ambiguus / MGI
increased liver weight / MGI
enlarged kidney / MGI
left pulmonary isomerism / MGI
dilated bile duct / MGI
bile duct proliferation / MGI
liver cysts / MGI
liver fibrosis / MGI
pancreas cysts / MGI
kidney failure / MGI
kidney cysts / MGI
increased kidney weight / MGI
polyhydramnios / MGI
abnormal primitive node morphology / MGI
abnormal direction of embryo turning / MGI
pericardial effusion / MGI
embryo phenotype / MGI
increased blood urea nitrogen level / MGI
polycystic kidney / MGI
abnormal placental labyrinth vasculature morphology / MGI
dilated proximal convoluted tubules / MGI
dilated pancreatic duct / MGI
ventricular septal defect / MGI
atrial septal defect / MGI
atrioventricular septal defect / MGI
abnormal hepatic vein morphology / MGI
mortality/aging / MGI
abnormal stomach position or orientation / MGI
right-sided stomach / MGI
postnatal lethality, incomplete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
kidney medulla cysts / MGI
abnormal papillary duct morphology / MGI
increased kidney apoptosis / MGI
increased kidney cell proliferation / MGI
increased glomerular capsule space / MGI
abnormal amniotic fluid composition / MGI
abnormal cholangiocyte morphology / MGI
increased cholangiocyte apoptosis / MGI
abnormal cholangiocyte primary cilium morphology / MGI

Literature references

The ion channel polycystin-2 is required for left-right axis determination in mice.;Pennekamp Petra, Karcher Christina, Fischer Anja, Schweickert Axel, Skryabin Boris, Horst Jürgen, Blum Martin, Dworniczak Bernd, ;2002;Current biology : CB;12;938-43; 12062060
Characterization of the murine polycystic kidney disease (Pkd2) gene.;Pennekamp P, Bogdanova N, Wilda M, Markoff A, Hameister H, Horst J, Dworniczak B, ;1998;Mammalian genome : official journal of the International Mammalian Genome Society;9;749-52; 9716661

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 embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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

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

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

B6N.129-Pkd2tm1Dwo/Cnrm