- 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)
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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