These Cdkn1c knock-out mice exhibit altered cell proliferation and differentiation, and display several phenotypes in common with Beckwith-Wiedemann syndrome.
Dr. Stephen Elledge, Harvard University
Mice lacking the Cdkn1c gene have altered cell proliferation and differentiation, leading to abdominal muscle defects; cleft palate; endochrondral bone ossification defects with incomplete differentiation of hypertrophic chondrocytes; renal medullary dysplasia; adrenal cortical hyperplasia and cytomegaly; lens cell hyperproliferation and apoptosis. The targeted gene is imprinted. The phenotype differs depending on whether the targeted allele is transmitted from the dam or the sire; maternal inheritance of the null allele is lethal. This is a model for the human Beckwith-Wiedemann syndrome.
A targeting construct that removed exons 1 and 2 (87% of the p57KIP2 coding region) was introduced into AB2.1 embryonic stem cells. Homologous recombinant cells were injected into C57BL/6 blastocysts. Male chimeras were mated to C57BL/6 females. The disrupted allele is a null.
|Allele Name||targeted mutation 1, SJ Elledge|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||Cdkn1c-; p57+/-m; p57-; p57KIP2|
|Gene Symbol and Name||Cdkn1c, cyclin-dependent kinase inhibitor 1C (P57)|
|Strain of Origin||129S7/SvEvBrd-Hprtb-m2|
|Molecular Note||Replacement of exons 1 and 2 (87% of the Cdkn1c coding region) with a neomycin cassette.|
|Mutations Made By|| |
Dr. Pumin Zhang, Baylor College of Medicine
The strain originated on a 129/Sv background and is currently at N9 on a C57BL/6 background. The donating investigator maintains the strain by mating heterozygous males to C57BL/6 females. The protein Cdkn1c is encoded by a maternally expressed, imprinted gene in both mice and humans. Maternal inheritance of the null allele is lethal. Expected coat color from breeding:Black
When using the p57- mouse strain in a publication, please cite the originating article(s) and include JAX stock #003336 in your Materials and Methods section.