Thus, the abnormal phenotypes are the consequences of the gene disruption, position effect or deletion at one of the break points resulting in haploinsufficiency
of critical X linked genes.
Impaired skeletal growth in mice with haploinsufficiency
of IGF-I: Genetic evidence that differences in IGF-I expression could contribute to peak bone mineral density differences.
The Tbx3 is relevant to the ulnar-mammary syndrome in humans and haploinsufficiency
of Tbx3 causes severe mammary hypoplasia, like the complete loss of mammary glands (Bamshad et al.
Causes a Syndrome of Inappropriate Antidiuresis in Mice" Journal of the American Society of Nephrology 2007; 18: 1740-1753
Although the functional effect of RPL22 mutations in endometrial cancer remains to be determined, it is noteworthy that RPL22 has been suggested to be a haploinsufficient tumor suppressor gene, based on observations that 10% of primary T-cell acute lymphoblastic leukemias exhibit monoallelic deletion of RPL22 and that haploinsufficiency
for RPL22 accelerates tumorigenesis in a mouse model of T-cell lymphoma (67).
of the mouse Forkhead Box f1 gene causes defects in gall bladder development.
Primary Insecticide class Mode of Vulnerable neurological action genetic target subpopulations AChE OP Inhibition PON1 polymorphisms CB Inhibition Voltage-gated OC Modified SCN1A, SCN1B sodium gating channel kinetics pyrethrin/pyrethriod Modified HCE1 (CES1) gating kinetics GABA-gated Cyclodienes (a form Antagonism HCE2 (CES2) GABA chloride of OC) receptor channel polymorphisms Phenylpyrazole Antagonism nAChR(a) Neonicotinoid Agonism Haploinsufficiency
of [alpha]7 nAChR Adapted from Scharf (2003).
of PAX9 is associated with autosomal dominant hypodontia.
GCPS is caused by mutations that lead to haploinsufficiency
for GLI3 and, as is typical for this mode of pathogenesis, the spectrum of mutations is very large.
as the inherited molecular mechanism for primary pulmonary hypertension.
For example, in LQTl, a dominant-negative mutation (in which an abnormal gene product interferes with normal gene product's ability to function) conferred a twofold risk of cardiac events, compared with mutations causing haploinsufficiency
of the protein (not enough protein produced for normal function).
Disorders (updated 1 February 2008).