- 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
B6N.129-Pkd2tm1Dwo/Cnrm
Status | Available to order |
EMMA ID | EM:02475 |
International strain name | B6N.129-Pkd2tm1Dwo/Cnrm |
Alternative name | B6N-Pkd2LacZ (Pkd2 |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Pkd2tm1Dwo |
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 |
|
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
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal dominant polycystic kidney disease / Orphanet_730
MGI phenotypes (allele matching)
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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