hypomorphic


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hypomorphic

(ˌhaɪpəˈmɔːfɪk)
adj
(Genetics) genetics showing a loss of gene function
References in periodicals archive ?
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
This gene can regulate the expression of the DNA unwinding element-binding protein in replication initiation and hypomorphic mutation in CDC7 reduced mouse growth rate [19].
Requirement for the mitochondrial pyruvate carrier in mammalian development revealed by a hypomorphic allelic series.
Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defects.
An advantage of the Drosophila model is the ability to use co-isogenic hypomorphic P{MiET1} mutants to assess the phenotypic effects of candidate genes harboring sequence variants associated with phenotypic variation in the DGRP.
Downregulated matriptase and consequent loss of matriptase activity in inflammatory bowel diseases led to persistent dextran sodium sulfate-induced colitis and prolonged, life-threatening inflammation in St14 hypomorphic mice [18].
Aside from the wide array of evidence showing HTRA1-DDR2MMP-13 activity in osteoarthritis of multiple modalities, the convergence of diverse noxious stimuli upon this axis is further supported in the protective effects exerted in DDR2 hypomorphic strains of mice, which, when subject to the DMM procedure, demonstrated a significant decrease in the progression of osteoarthritis compared to wild type littermates [29], comparable to the ablation of MMP-13, which has the effect of protecting cartilage from degradation in osteoarthritis induced through destabilization of the medial meniscal ligament (DMM-induced osteoarthritis) in murine models, though interestingly enough chances to the chondrocytes themselves and other cells in response to the procedure persisted [17].
The second tier builds on transfer of the microbiota from patients with active IBD harbouring dominant IBD risk genes into mice genetically hypomorphic at the orthologues of these risk genes, and to resolve the hierarchy of immunologically targeted microbes within the humanised microbiota via MiIP-Seq.
1-4) The autosomal-dominant form is caused by dominant hypomorphic signal transducer and activator of transcription 3 (STAT3) mutations, often involving the DNA-binding and SRC homology 2 protein domains, while the recessive form is caused by null mutations of the dedicator of cytokinesis-8 (DOCK8) and tyrosine kinase-2 (Tyk2) genes.
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.
Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
The situation for germline mutations is different and only hypomorphic mutations are compatible with live birth.