Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations.

doi:10.1016/S0002-9440(10)63409-8

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Article

Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations.

The American journal of pathology - 1 Nov 2004

Plummer Nicholas W, Gallione Carol J, Srinivasan Sudha, Zawistowski Jon S, Louis David N, Marchuk Douglas A

Abstract excerpt

Cerebral cavernous malformations (CCM) consist of clusters of abnormally dilated blood vessels. Hemorrhaging of these lesions can cause seizures and lethal stroke. Three loci are associated with autosomal dominant CCM, and the causative genes have been identified for CCM1 and CCM2. We have generated mice with a targeted mutation of the Ccm1 gene, but an initial survey of 20 heterozygous mice failed to detect any...

Topics

Alleles
Animals
Brain
Capillaries
Disease Models, Animal
Exons
Genes, p53
Genotype
Heterozygote
Humans
Intracranial Arteriovenous Malformations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

KRIT1 Protein

Loss of Heterozygosity

Mice

Microsatellite Repeats

Microscopy, Fluorescence

Microtubule-Associated Proteins

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 15509522
DOI: 10.1016/S0002-9440(10)63409-8
PMCID: PMC1618670

Genes

CCM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-15509522-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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