• Not all heterozygotes for recessive lethal alleles will show a mutant phenotype, as is the case for cystic fibrosis carriers. (wikipedia.org)
  • Crosses of two heterozygous Manx cats result in two-thirds of surviving offspring displaying the heterozygous shortened tail phenotype, and one-third of surviving offspring of normal tail length that is homozygous for a normal allele. (wikipedia.org)
  • The complication is that your terminology could be only addressing the "lethal" phenotype. (blogspot.com)
  • The novel ten-1(et5) allele is a hypomorph since its post-embryonic phenotype is weaker than the null alleles ten-1(ok641) and ten-1(tm651) . (biomedcentral.com)
  • By genetic suppressor screening of the small-body phenotype of a cilium defective mutant, we identified a chb-3 gene. (stanford.edu)
  • A reduction to 50% activity in the heterozygote, a common feature for many mutants, is therefore not expected to be detectable in the phenotype. (typeset.io)
  • Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. (yeastgenome.org)
  • Previous studies have reported that a mutation in the gene encoding myosin-4 ( unc-54 ) suppresses the Mua phenotype of mua-1 mutants (Plenefisch et al. (wormbook.org)
  • double mutant had a stronger phenotype than each single mutant, with its penetrance of the Ven phenotype being higher than that of the ven-1 mutant and its growth being much slower than that of the unc-54 mutant. (wormbook.org)
  • This mutant shows a severe slow-growth phenotype, which could be fully suppressed by increased dosage of the ubi1∆ub-HA allele, or partially by the replacement of ubiquitin by the ubiquitin-like Smt3 protein. (123dok.net)
  • chem 1 and chem 3 mutations suppress yurt 3 , and chem 3 mutants suppress crumbs 1 mutations. (peerj.com)
  • All catalase mutants are viable under standard culture conditions and recessive lethal mutations within the 75Cl-F1 interval have been shown not to affect catalase activity. (lookformedical.com)
  • Two catalase mutations are amorphic while four are hypomorphic alleles of the Cat+ locus. (lookformedical.com)
  • All these sup45-n mutations are viable in different genetic backgrounds, however their viability increases after growth in the absence of wild-type allele. (biomedcentral.com)
  • We have studied the effect of five of the mutations on expression of an endogenous allele known to be sensitive to epigenetic state, agouti viable yellow. (edu.au)
  • Yeast cells with mutant alleles for Pol ε proofreading deficiency (enzymatic amplification of the genome [30 31 Because DNA polymerases are used to amplify the DNA foundation misincorporation events can lead to the rating of thousands of false mutations. (bioerc-iend.org)
  • Germline clones derived from the mutant alleles have much stronger embryonic lethal phenotypes. (peerj.com)
  • Homozygous mutants are embryonic lethal. (pkd-rrc.org)
  • All are semidominant and five of the six are homozygous embryonic lethal. (edu.au)
  • This was the first documented example of a recessive lethal allele. (wikipedia.org)
  • A pair of identical alleles that are both present in an organism that ultimately results in death of that organism are referred to as recessive lethal alleles. (wikipedia.org)
  • Another example of a recessive lethal allele occurs in the Manx cat. (wikipedia.org)
  • recessive lethal? (blogspot.com)
  • Thus the allele is a homozygous lethal but not a "recessive" lethal. (blogspot.com)
  • In that case it is not a dominant "lethal" so it must be a recessive "lethal. (blogspot.com)
  • Lethal alleles may be recessive, dominant, or conditional depending on the gene or genes involved. (wikipedia.org)
  • In addition, we show that these alleles genetically interact with epithelial polarity genes, and have epithelial polarity defects. (peerj.com)
  • Wild type, mutant and heterozygote for variants of such genes differ in the catalytic activity at the step in the enzyme network specified by the gene in question. (typeset.io)
  • Our findings broaden PAM recognition options for mouse genome editing and identify SaCas9/SaCas9 KKH as useful alternatives when targeting genes with null lethal phenotypes. (sahmri.org.au)
  • This screen has identified genes that are involved in epigenetic reprogramming of the genome, and the behavior of the mutant lines suggests a common mechanism between X inactivation and transgene and retrotransposon silencing. (edu.au)
  • This analysis did not identify any synthetic lethal interactions but did reveal 23 synthetic slow growth interactions, many in combination with deletions of genes involved in cell membrane/wall processes. (biomedcentral.com)
  • This analysis identified 114 genes displaying synthetic sick/lethal (SSL) interactions with tra1 SRR 3413 . (biomedcentral.com)
  • Inheritance of two mutant protoporphyrin oxidase genes causes a more profound reduction in residual enzyme activity to 25% or less, leading to more severe disease manifestations. (medscape.com)
  • The fused-toe mutant is a poor model for studying the role of altered Fto activity , because multiple genes are deleted. (gnxp.com)
  • Very rare childhood cases have been ascribed to the presence of 2 mutant protoporphyrinogen oxidase genes in the same individual. (medscape.com)
  • One of the mutant alleles of the agouti gene results in mice with a much lighter, yellowish colour. (wikipedia.org)
  • Mutants in the gene encoding the InsP 3 R ( itpr ) in Drosophila exhibit a range of defects including altered wing posture, increased spontaneous firing, and loss of rhythmic flight patterns in response to an air puff stimulus. (jneurosci.org)
  • Note that males are homozygous for mutant alleles because the gene is on the X chromosome) [ OMIM 300502 ]. (blogspot.com)
  • There are many alleles of this gene and some of them cause genetic diseases. (blogspot.com)
  • Besides originally categorizing mutant phenotypes and gene classes, these studies lead to many mechanistic insights and principles of developmental processes. (peerj.com)
  • ten-1 mutants have defects in all pharyngeal neurons that we examined, and in vivo reporters show that only the long form of the ten-1 gene is expressed in the pharynx, specifically in six marginal cells and the M2 neurons. (biomedcentral.com)
  • However, a viable nonsense mutant has been isolated for the prfB gene of S. typhimurium encoding RF2 release factor. (biomedcentral.com)
  • An allele is a variant of a gene, often induced by mutagenic means. (flybase.org)
  • An allele may be defined by genetic/phenotypic characteristics, e.g. by complementation analysis, or in terms of alterations mapped to the known sequence of that gene, or both. (flybase.org)
  • The gene which the mutant affects. (flybase.org)
  • In order to understand the roles for Inturned in mammalian embryonic development, we generated a null mutant allele for the mouse homologue of Inturned (Intu) via gene-targeting in ES cells. (psu.edu)
  • 1996. A new mutant allele for Xa/xa gene and its use for location of newly induced mutants in the long arm of barley's chromosome 1. (nordgen.org)
  • Curated mutant alleles for the specified gene, listed alphabetically. (yeastgenome.org)
  • Lethal alleles of the Drosophila k43 gene result in small or missing imaginal discs, greatly reduced mitotic index, and fragmented and abnormally condensed chromosomes. (johnshopkins.edu)
  • A female-sterile allele of k43 specifically reduces chorion gene amplification in ovarian follicle cells. (johnshopkins.edu)
  • k43 was cloned by chromosomal walking, and the identification of the k43 gene was confirmed by phenotypic rescue and sequence analysis of mutant alleles. (johnshopkins.edu)
  • The founder gene mutation common among South Africans encodes an enzyme with little or no residual activity that may be lethal in homozygotes. (medscape.com)
  • FTO is a gene of unknown function in an unknown pathway that was originally cloned as a result of the identification of a fused-toe (Ft) mutant mouse that results from a 1.6-Mb deletion of mouse chromosome 8. (gnxp.com)
  • If expression of a trait requires only one copy of a gene (one allele), that trait is considered dominant. (msdmanuals.com)
  • If expression of a trait requires 2 copies of a gene (2 alleles), that trait is considered recessive. (msdmanuals.com)
  • This indicated that the yellow mutation is dominant, and all the parental yellow mice were heterozygotes for the mutant allele. (wikipedia.org)
  • This mutation represents the first reported allele ofCUL1to directly affect subunit interactions at the CUL1 C terminus. (1library.net)
  • Mutant allele frequencies were at 40-50% , suggesting that the mutation was present in most or all tumor cells. (massgenomics.org)
  • Four South African children manifesting variegate porphyria were compound heterozygotes with the founder mutation on one allele, but a different mutation apparently encoding an enzyme with enough residual activity to enable survival, on the other. (medscape.com)
  • Accession I0007 Systematic name Allele 1 and 2: g.11171dupA, c.123dupA, r.123dupa, Systematic name p.Pro42fsX4 Description Allele 1 and 2: A frame shift duplication mutation in the Description exon 2 leading to a premature stop codon Date 08-Sep-2006 (Rel. (lu.se)
  • The genetics of catalase in Drosophila melanogaster: isolation and characterization of acatalasemic mutants. (lookformedical.com)
  • As well as including allele reports for classical mutant alleles and natural variants, e.g. electrophoretic variants, FlyBase also includes reports for alleles that have been introduced into Drosophila via transgenic constructs. (flybase.org)
  • A person exhibits Huntington's disease when they carry a single copy of a repeat-expanded Huntington allele on chromosome 4. (wikipedia.org)
  • Because males usually have no paired allele to offset the effects of most alleles on the X chromosome, the X chromosome allele is expressed in males even if the trait is recessive. (msdmanuals.com)
  • Like the original allele, a fraction of mutant embryos die with cuticular defects, notably head involution and dorsal closure defects. (peerj.com)
  • Embryonic defects are much more extreme in germline clones, where the majority of mutant embryos die during embryogenesis and do not form cuticle, implying a strong chem maternal contribution. (peerj.com)
  • Embryos with strongly disrupted apico-basal polarity do not develop, and result in lethal mutant phenotypes where only small pieces of cuticle are synthesized. (peerj.com)
  • A fraction of these mutant embryos have lethal head involution or dorsal open phenotypes, and have an extended phenocritical period. (peerj.com)
  • None of the body neurons examined show any defects in the ten-1(ok641) mutant, but genetic interaction studies reveal that ten-1(ok641) is synthetic lethal with sax-3, unc-34 and unc-73 , and examination of the hypodermal cells in embryos of the ten-1(ok641) mutant point to a role of ten-1 during hypodermal cell morphogenesis. (biomedcentral.com)
  • Remarkably, in contrast to wild-type SpCas9, these endonucleases frequently generated mutant embryos that retain unmodified alleles in both template-free and HDR-repair experiments. (sahmri.org.au)
  • We found that in Intu mutant embryos the expression of Gli1 and Ptch1, two direct transcriptional targets of Hh signaling, is down-regulated, and the proteolytic processing of Gli3 is compromised. (psu.edu)
  • inheriting one defective BRCA allele results in a greatly increased risk of breast cancer and ovarian cancer, while inheriting both defective alleles will result in a severe form of Fanconi anemia (FA-S for BRCA1, FA-D1 for BRCA2) that is embryonically lethal in most cases. (wikipedia.org)
  • The semi-dominant mutants at the Xnt1 locus are defective in the 42 kDa protein subunit (42-kDa XANTHA-H) involved in insertion of Mg2+ into protoporphyrin IX (4). (nordgen.org)
  • The semi-dominant Xnt1 mutants are alleles at the xan-h locus, but the lethal recessive xantha-h mutants do not retain the defective protein in the 42-kDa subunit (4, 5, 6). (nordgen.org)
  • To identify genetic interactions for TRA1 and provide insight into its function we have performed a systematic genetic array analysis (SGA) on tra1 SRR 3413 , an allele that is defective in transcriptional regulation. (biomedcentral.com)
  • Here, we report characterization of a mutant isolated from a genetic screen in Arabidopsis thalianadesigned to identify plants defective in degradation of an Aux/IAA fusion protein, Aux/IAA1-luciferase (IAA1-LUC). (1library.net)
  • Together, these phenotypes contribute to the loss of flight behavior observed in itpr mutants. (jneurosci.org)
  • We isolated five new mutant alleles with embryonic phenotypes. (peerj.com)
  • acd-1(sta6) is predicted to be a null allele (~200bp indel causing frameshift in exon 4). (umn.edu)
  • And homozygous lethal should be. (blogspot.com)
  • There's no ambiguity in "homozygous lethal. (blogspot.com)
  • Mouse Intu null mutants are homozygous lethal at midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system and abnormal anterior-posterior patterning of the limbs resulting in severe polydactyly (7-9 digits each limb). (psu.edu)
  • Lethal alleles can be embryonically lethal, in which the fetus will never survive to term, or may be lethal perinatally or postnatally after an extended period of apparently normal development. (wikipedia.org)
  • Embryonically lethal alleles are a cause of non-Mendelian patterns of inheritance, such as the observation of traits in a 2:1 ratio. (wikipedia.org)
  • The homozygous Ft mouse is embryonically lethal and shows abnormal development, including left/right asymmetry. (gnxp.com)
  • Color differences between normal and heterozygous plants are observed in the Xnt1.a2 mutant only just prior to heading (10). (nordgen.org)
  • Mutants at the Xnt1 locus must be maintained as heterozygous stocks (3, 7). (nordgen.org)
  • 2014. Reduced chlorophyll biosynthesis in heterozygous barley magnesium chelatase mutants. (nordgen.org)
  • There are more than three dozen alleles that give rise to symptoms ranging from mild lactic acidosis to developmental defects. (blogspot.com)
  • chem mutants dorsal open defects are similar to those present in yurt mutants, and, likewise, they have epithelial polarity defects. (peerj.com)
  • They isolated only one allele with dorsal closure defects. (peerj.com)
  • These ten-1 mutants are reported to have defects in the growth of several axons and in the development of the gonads and epidermis, and these defects correlated with disruptions in the extracellular matrix (ECM). (biomedcentral.com)
  • Finally, a cytoplasmic GFP-Intu fusion protein efficiently rescues the ciliogenic defects in Intu mutant cells. (psu.edu)
  • The ven-1 mutants also showed muscle attachment defects (Mua) (Shioi et al. (wormbook.org)
  • Staining with the antibodies was detected in the displaced muscles (Figure 3), suggesting that ven-1 mutants have major defects in the hypodermis. (wormbook.org)
  • This study reports the isolation of a stable deficiency, Df(3L)CatDH104(75C1-2;75F1), that uncovers the catalase locus and the subsequent isolation of six acatalasemic mutants. (lookformedical.com)
  • We had previously reported the lethal mutant, ven (for ven tral cord abnormal), exhibiting nerve cord displacement or detachment (Shioi et al. (wormbook.org)
  • Two copies of an abnormal allele are needed to express an autosomal recessive trait. (msdmanuals.com)
  • Besides, Polθ is an attractive synthetic lethal target for drug discovery, predicted to be efficacious against breast and ovarian cancers harboring BRCA-mutant alleles. (cancer-research-network.com)
  • Lethality of the new alleles as homozygous zygotic mutants is not completely penetrant, and they have an extended phenocritical period. (peerj.com)
  • Unexpectedly, elimination of one Trp53 allele completely rescues this embryonic lethality and restores normal mammary gland development. (nih.gov)
  • Alleles that need only be present in one copy in an organism to be fatal are referred to as dominant lethal alleles. (wikipedia.org)
  • An example in humans of a dominant lethal allele is Huntington's disease, a rare neurodegenerative disorder that ultimately results in death. (wikipedia.org)
  • In the first instance, a dominant mutant for the sarco-endoplasmic reticular Ca 2+ -ATPase (SERCA) pump was introduced into itpr mutant backgrounds. (jneurosci.org)
  • Most of these alleles are "dominant" or "semi-dominant" which means the genetic disease is manifest when only one copy is present. (blogspot.com)
  • The dominant screen has produced six mutant lines, including both suppressors and enhancers of variegation. (edu.au)
  • Lethal alleles were first discovered by Lucien Cuénot in 1905 while studying the inheritance of coat colour in mice. (wikipedia.org)
  • He was unable to produce any mice that were homozygous for the yellow agouti allele. (wikipedia.org)
  • We thank Dr. Cindy Mckinney and Tom Salada at the Penn State University transgenic mouse facility for their technical help in generating the Intu mutant ES cells and chimeric mice. (psu.edu)
  • However, most female Brca1Delta11/Delta11 Trp53+/- mice develop mammary tumors with loss of the remaining Trp53 allele within 6-12 months. (nih.gov)
  • For instance, animal studies have demonstrated that passive transfer of antibodies specific to the bacterial lipopolysaccharide (LPS) or capsular polysaccharide (CPS) can protect mice ( 7 - 9 ) or a diabetic rat model ( 10 ) from intranasal or intraperitoneal challenge of B. pseudomallei at lethal doses. (cdc.gov)
  • Intraperitoneal or subcutaneous immunization of mice with B. pseudomallei LPS, CPS ( 11 ), or CPS covalently linked to recombinant CRM197 diphtheria toxin mutant (CPS-CRM197) plus hemolysin coregulated protein 1 (Hcp1) ( 12 ) provided an optimal protective antibody response. (cdc.gov)
  • We found that full-length eRF1 protein is present in all mutants, although in decreased amounts. (biomedcentral.com)
  • These patients demonstrate a proportionate decrease in both the antigenic and activity level of the protein, most often a result of an unexpressed protein from the mutant allele. (ilbcdi.org)
  • We have analyzed the phenotypic effects of a genomic ubi1∆ub-HA ubi2∆ mutant, which expresses a ubiquitin-free HA-tagged eL40A protein as the sole source of cellular eL40. (123dok.net)
  • Moreover, Loss of Polθ is synthetic lethal in tumor cells with impaired DNA repair resulting from multiple genetic alterations. (cancer-research-network.com)
  • The SGA analysis revealed 114 synthetic slow growth/lethal (SSL) interactions for tra1 SRR 3413 . (biomedcentral.com)
  • As the lack of synthetic lethal interactions may have arisen from an incomplete selection against diploids in the automated screens, we repeated the screen in a strain background that selects more strongly against diploids. (biomedcentral.com)
  • We performed an initial systematic genetic array (SGA) analysis with the most pronounced allele, tra1 SRR 3413 . (biomedcentral.com)
  • Above 30°C, Ca 2+ signals declined and were similar to controls at 34°C. A prolonged decay of Ca 2+ signals in mutant boutons at high temperatures indicated abnormally slow Ca 2+ clearance. (jneurosci.org)
  • sra-13(zh13) mutants display stronger chemotaxis to limiting concentrations of isoamylalcohol and diacetyl than WT animals. (umn.edu)
  • Lethal alleles (also referred to as lethal or lethals) are alleles that cause the death of the organism that carries them. (wikipedia.org)
  • These alleles are not commonly found in populations because they usually result in the death of an organism before it can transmit its lethal allele on to its offspring. (wikipedia.org)
  • The organism that the allele originates from, with the initial letter of the genus and the full species name listed. (flybase.org)
  • This double mutant was created by CRISPR-engineered deletion of acd-1 in a delm-2(ok1822) background (parental strain RB1523). (umn.edu)
  • Deletion allele. (umn.edu)
  • Mutant plants form fewer lateral roots, while ARABIDILLO-1-overexpressing lines produce more lateral roots than wild-type seedlings. (or.jp)
  • This mutant exhibited fourfold slower IAA1-LUC degradation compared with the progenitor line, and seedlings displayed altered auxin responses. (1library.net)
  • For example, unlike strains with deletions of NuA4 components, the tra1 mutant strains were relatively insensitive to DNA damaging agents. (biomedcentral.com)
  • Homozygous offspring for the mutant allele cannot survive birth and are therefore not seen in these crosses. (wikipedia.org)
  • When both mutant alleles are present the patient does not survive. (blogspot.com)
  • Two null alleles of C. elegans ten-1 have previously been isolated using a reverse genetics approach. (biomedcentral.com)
  • probably a null allele. (umn.edu)
  • We moved ahead with confidence that we would be able to generate a homozygous null mutant. (invivobiosystems.com)
  • This field is only displayed if the allele, or an insertion associated with the allele, has been mapped to the genome. (flybase.org)
  • the allele represents an open reading frame carried in the insertion, where its expression is influenced by a regulatory region in the genome where it is inserted e.g. (flybase.org)
  • Compared to controls, in chem mutants in embryonic lateral epithelia Crumbs expression is mislocalized and reduced, Coracle is increased and mislocalized basally at embryonic stages 13-14, then reduced at stage 16. (peerj.com)
  • This triple mutant strain was made by crossing the acd-1(sta6) delm-2(ok1822) double mutant with delm-1(ok1226) parental strain RB1177. (umn.edu)
  • If two cystic fibrosis carriers have children, they have a 25 percent chance of producing offspring having two copies of the lethal allele, eventually resulting in the death of the child. (wikipedia.org)
  • For species other than D.melanogaster, the species prefix is displayed wherever the allele symbol is used throughout FlyBase. (flybase.org)
  • For D.melanogaster alleles, the species prefix is only displayed in the General Information section at the top of a Report. (flybase.org)
  • This mutant was also resistant to toxic doses of methamphetamine (MA) and 3,4-methylenedioxymethamphetamine (MDMA). (stanford.edu)
  • Alleles that will only be fatal in response to some environmental factor are referred to as conditional lethals. (wikipedia.org)
  • Experiments identified the mutant as an allele of CUL1, namedcul1-7. (1library.net)
  • The widespread occurrence of recessive mutants is seen to be the inevitable consequence of the kinetic structure of enzyme networks, and Wright's analysis, substantially sound in its approach, proposed selection of a "safety factor" in enzyme activity. (typeset.io)
  • The exception in the Allele Report is the General Information section which contains a summary of the identity of the allele. (flybase.org)
  • Two alleles are known to cause problems but the patients respond well to dietary treatment [ OMIM 608770 ]. (blogspot.com)
  • In a forward genetic screen, we identified a mutant resistant to the toxic effects of dopamine. (stanford.edu)
  • We previously isolated a C. elegans mutant where one pharyngeal neuron was frequently misplaced, and now show that it corresponds to a novel allele of ten-1 . (biomedcentral.com)
  • This is due to reduced pollen tube growth of the mutant. (or.jp)