B6N.129-Pkd2tm1Dwo/Cnrm

Status

Available to order

EMMA IDEM:02475
International strain nameB6N.129-Pkd2tm1Dwo/Cnrm
Alternative nameB6N-Pkd2LacZ (Pkd2)
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolPkd2tm1Dwo
Gene/Transgene symbolPkd2

Information from provider

ProviderBernd Dworniczak
Provider affiliationUniversity Clinics Muenster
Genetic informationExon 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 informationHomozygous 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 historyBackcrossed 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 fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

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

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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).

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Practical information

Example health report
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Material Transfer Agreement (MTA)
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EMMA conditions
Legally binding conditions for the transfer

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