Sentences with phrase «mutant allele»

Subsequently, another 65 German Shepherds were tested in order to determine the frequency of mutant alleles in this breed.

A clustering analysis of mutant allele frequencies suggested that there were four clones (tumor subpopulations) in the primary tumor defined by distinct sets of mutations.

Although phenotypic consequences, referred to here as biallelic effects, resulting from two different mutant alleles in compound heterozygote patients have been postulated, such effects have historically been difficult to distinguish from the influence of environment and genetic background.

The affected puppy tested as homozygous for mutant allele 1.

(F) The sequence of eight mutant alleles from quadruple - mutant colonies # 5, # 45 and # 79.

(A) sgRNA target for the generation of CCHa2 mutant alleles [CCHa2 (88); underlined].

Compound heterozygotes are individuals carrying two different mutant alleles of the same gene.

Fourteen of the 16 mutant alleles identified were previously unknown.

Gene therapy is the insertion of genes into an individual's cells and tissues to treat a disease, and hereditary diseases in which a defective mutant allele is replaced with a functional one.

We implemented mutant alleles at any among five autosomal loci that imparted nonpleiotropic, deleterious effects (i.e., mutations that affected fertility did not affect survival and vice versa).

As shown in Table 1, the presence of one or two Mstn mutant alleles in combination with the F66 transgene resulted in increasingly more muscle mass than seen in F66 transgenic mice that were wild type for Mstn.

Thus, the range of expression levels from these two mutant alleles affected their ability to complement some phenotypes (hair).

In the third type of biallelic effect, known as interallelic complementation, two mutant alleles produced a phenotype closer to wt than either could alone in a homo - or hemizygous state.

We subjected 474 mutant alleles curated from 5,338 tumors to pooled in vivo tumor formation assays and gene expression profiling.

Dr. Huizing demonstrated that elimination of the single mutant allele using a synthetic small interfering RNA (siRNA) rescued the abnormal phenotype in cultured cells from sialuria patients.

It has been confirmed that this strain (Stock No. 006148) is homozygous for the Nnt mutant allele.

Mice that are homozygous for the R26 - stop - EYFP mutant allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities.

Activation of endogenous Wnt signalling in Prom1 (+ / C - L) mice containing a Cre - dependent mutant allele of beta - catenin (Ctnnb1 (lox (ex3)-RRB--RRB- resulted in a gross disruption of crypt architecture and a disproportionate expansion of Prom1 (+) cells at the crypt base.

Many psq mutant alleles have been recovered that show distinct embryonic and adult phenotypes.

31) Soh J, Okumura N, Lockwood WW, Yamamoto H, Shigematsu H, Zhang W, Chari R, Shames D, Tang X, MacAulay C, Varella - Garcia M, Vooder T, Wistuba II, Lam S, Brekken R, Toyooka S, Minna JD, Lam WL, Gazdar AF (2009) Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.

The median mutant allele frequency (MAF) in the urinary cells with detectable mutations was 8 % (8.14 %.

The randomized study reveals a current 2 % PFK mutant allele frequency in the field trial ESSP breeding population.

Having done that, we found that a small percentage of the «go normals» were in fact not homozygous for the CH mutant allele, but were heterozygous.

Table 3 summarizes the frequency of the Cox - 2 mutant alleles in various breeds for which there were sufficient number of dogs tested.

The sire of this dog was one of the animals that had produced RD affected puppies, and was inferred as having at least one copy of mutant allele 1 based on examination of the remainder of the littermates of the carrier dog that was identified.

Genetic tests revealed that all ants in a monogyne colony have two copies of the B allele, but among the polygynes, at least 10 % are heterozygous, carrying a mutant allele, b, which Krieger says appears to code for a faulty protein.

Thus, the activated H - ras1 allele was not by itself dominant over the normal allele but predisposed cells to transformation by independent events, such as amplification of the mutant allele.

Instead, spontaneously transformed cells arose from the heterozygotes at a low frequency, and the majority of these cells had amplified the mutant allele.

Thus, the survival of XpdTTD / † XPCS (and XpdTTD / † XP) cells likely represents a level of UV resistance that neither mutant allele can impart on its own (Table 2).

In transient transgenic reporter studies of zebrafish embryos, the +254 kb element holds up: the wild - type allele had enhancer activity in 41/82 embryos (50 %), whereas the mutant allele had enhancer activity in 3/83 embryos (3.6 %).

The corresponding hypomorphic, mutant allele was thus designated as homozygous lethal († XPCS).

By comparing gene expression changes induced upon expression of wild - type and mutant alleles, we inferred the activity of specific alleles.

We study naturally - occurring mutations in prohormone convertases which are associated with obesity, and have shown that inactivating mutations can lead to dominant - negative effects on peptide hormone biology in mice bearing only one mutant allele.

When they expressed a mutant allele from a human sample with CD2AP - associated NS, the renal damage remained unchanged.

A team led by Jinsong Li from the Chinese Academy of Sciences found that mice with a dominant mutation in a gene that causes cataracts could be rescued by coinjection into zygotes of Cas9 mRNA and a single - guide RNA targeting the mutant allele.

The mutant allele was expressed in d42m1 tumor cells and regressor clones, but absent from all escape tumors and regressor clones.

Although these two mutant alleles are both homozygous - viable, we used them in transheterozygous combination (i.e., CCHa2 - RKO51 - 2 / CCHa2 - RTAL - 34) to avoid the effects of any unexpected secondary mutations.