GeneSet Information

Tier II GS136294 • modifier of Trp53 1 (Motp1, Published QTL Chr 11)

DESCRIPTION:

QTL associated with modifier of Trp53 1. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (70313264)

LABEL:

QTL-Motp1-Mouse-Chr 11

SCORE TYPE:

Binary

DATE ADDED:

2012-04-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Evans SC, Liang M, Amos C, Gu X, Lozano G

TITLE:

A novel genetic modifier of p53, mop1, results in embryonic lethality.

JOURNAL:

Mammalian genome : official journal of the International Mammalian Genome Society Jun 2004, Vol 15, pp. 415-23

ABSTRACT:

The heterogeneity that occurs in the tumor spectrum and latency in Li-Fraumeni syndrome (LFS) patients with inherited mutations in p53 suggest risk modifiers at loci other than the major gene. We developed a mouse model to investigate these risk modifiers. Inbred CE/J mice, which succumb to multiple types of tumors similar to those found in LFS, were crossed with the p53-null 129/Sv (129-Trp53(tm1Tyj)) mouse. In this cross, we uncovered evidence for a genetic modifier of p53, mop1, based on an unexpected mix of genotypes in the F2 progeny from Mendelian expectations. A model in which a recessive CE/J allele in combination with p53 heterozygosity or homozygosity results in lethality most closely fits the data. Using simple-sequence length polymorphism analysis of the entire genome, we identified a putative chromosomal region for this modifier of p53 on mouse chromosome 11 centromeric to p53. PUBMED: 15181534
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Annotation Information

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Li-Fraumeni Syndrome (D016864)
Population Characteristics (D011154)
Alleles (D000483)
Chromosomes (D002875)
Patients (D010361)
Neoplasms (D009369)
Chromosomes, Human, Pair 11 (D002880)
Genotype (D005838)
Polymorphism, Genetic (D011110)
Mutation (D009154)
embryonic lethality (MP:0008762)
chromosome (GO:0005694)

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