Sentences with phrase «ccha2 mutant alleles»

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.

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

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.

Fourteen of the 16 mutant alleles identified were previously unknown.

Parents transmit their alleles to offspring according to autosomal Mendelian genetic rules; thus, if a parent is homozygous, then that parent transmits one mutation; if heterozygous, then the mutant allele is transmitted with 50 % probability.

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).

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

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.

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 %).

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

Phenotype data from 449 mutant alleles were acquired, representing 320 unique genes, of which half had no previous functional annotation and data from over 27,000 mice were captured, finding that 83 % of the mutant lines are phenodeviant, with 65 % demonstrating pleiotropy.

Although interallelic complementation between two endogenous mutant alleles has been described in cells from a compound heterozygous patient with methylmalonic acidaemia, no observable effects on disease outcome were noted in the patient [28].

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

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

Genomic position is plotted on the x axis and observed mutant allele frequency on the y axis.

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

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

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.

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.

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.

(A) Deletion in the CCHa2 - RKO51 - 2 mutant allele.

These mutant alleles were first used to examine whether CCHa2 - R is required for the transcription of two Drosophila insulin - like peptide (dilp) genes.

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.

Here, we identify three additional novel mutant alleles of the SHELL gene, which encode a type II MADS - box transcription factor, and determine oil yield via control of shell fruit form phenotype in a manner similar to two previously identified mutant SHELL alleles.

For 279 of them, the mutant allele does not appear to be expressed.

(B) Deletions in CCHa2 mutant alleles and the resulting amino acid sequences.

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

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

The mutant allele was expressed (detected in the RNA) in 34 %.

So, the mutant allele causes disease symptoms even though a healthy allele is present.

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.

It should be noted that the sensitivity for calling SNPs represents an upper bound for calling somatic mutations, since the latter often display mutant allele fractions less than 50 %.

The mutant allele does not cause disease symptoms when a healthy allele is also present.

The effects of the healthy allele can compensate for the effects of the mutant allele.

The MMRRC at UC Davis received 604 strains for a total of 495 mutant alleles, including the secreted and trans - membrane protein models, and knockout models targeting 23 other genes from the Genentech and Lexicon Pharmaceutical collaboration.

However, if a parent inherits two mutant alleles, there are no healthy alleles, so the mutant allele can exert its effect.

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

RESULTS: Of the 40 Collies, 9 (22 %) were homozygous for the normal allele (normal), 17 (42 %) were heterozygous (carrier), and 14 (35 %) were homozygous for the mutant allele (affected).

The PCR products were sequenced to determine whether the Collies had 0, 1, or 2 mutant alleles.

Does the presence of a mutant allele mean that dog needs to be withheld from breeding?

However, caution should be used in aggressively selecting against mutant alleles which have low penetrance or low risk for the disease state when the mutant alleles are common throughout the breed.

Prevalence of HUU mutation The mutant allele frequency varies among breeds.

HUU test A DNA test for the hyperuricosuria mutation is now available and may be used by breeders to decrease the mutant allele frequency in breeds that carry the mutation.

Follow - up genotyping revealed that all 5 cases were homozygous for the mutant allele, both parents were heterozygous, and ten sibs and first degree relatives were heterozygous or homozygous for the reference allele.

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

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.