ライフサイエンスコーパス: mutant allele

1 s that were restored upon repair of an ESRP1 mutant allele.

2 ssion of full-length protein from a nonsense-mutant allele.

3 ings were either heterozygotes or lacked the mutant allele.

4 utant allele-specific inactivation of the HD mutant allele.

5 firmed postnatal to carry their family's RB1 mutant allele.

6 specially the prevalence of the Trp53(R172H)-mutant allele.

7 ctivity following CRISPR-Cas9 editing of the mutant allele.

8 Rbp1 allele and another with the CpRbp1-null mutant allele.

9 nd express dozens of novel isoforms from the mutant allele.

10 were consistent with reported phenotypes for mutant alleles.

11 ity to distinguish between the wild-type and mutant alleles.

12 ignature in terms of sample distributions of mutant alleles.

13 ozygotes that combine strong and hypomorphic mutant alleles.

14 ance, we identified multiple cacophony (cac) mutant alleles.

15 mice and humans expressing orthologous TP53 mutant alleles.

16 lbinos and the mosaics had more than two new mutant alleles.

17 en small age-specific effects of deleterious mutant alleles.

18 osed to meiotic expansion to full-penetrance mutant alleles.

19 ue phenotypes, based on the number of ahFAD2 mutant alleles.

20 ded evidence for decreased expression of the mutant alleles.

21 with only 112 genes regulated by both WT and mutant alleles.

22 ild or more than 1 subject carrying 2 CYP1B1 mutant alleles.

23 of mutated genes and residual activities of mutant alleles.

24 le, functional tumor suppressor genes by the mutant alleles.

25 owth defects that are shared with other chc1 mutant alleles.

26 te variants and revealed missplicing for the mutant alleles.

27 suppress the spore viability defects of hop1 mutant alleles.

28 enabling detection of low-frequency (<0.01%) mutant alleles (~1 copy) in blood samples of pancreatic

29 g the outer layer composition of a series of mutant alleles, a tight proportionality of xylose, galac

30 sic mutant alleles accumulate LATE ELONGATED HYPOCOTYL (LHY)

31 expression to an extent not seen with either mutant allele alone, including at the Gata2 locus.

32 The toxic RNA transcripts produced from the mutant allele alter the function of RNA-binding proteins

33 Mutant allele analysis is consistent with tumor initiati

34 pendent nonsense-mediated degradation of the mutant allele and a signature of perturbed cardiac metab

35 y, with phenotypic severity dependent on the mutant allele and its time of activation.

36 on defect, as a clathrin heavy chain1 (CHC1) mutant allele and show that it has a decreased rate of e

37 AC are associated with low expression of the mutant allele and that the myocardial protein expression

38 In this study, we generated 2 smyd1a mutant alleles and analyzed the muscle defects in smyd1a

39 rch demonstrates strong interactions between mutant alleles and genetic background.

40 COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in reg

41 Metabolite analysis of mutant alleles and heterologous expression demonstrate t

42 pic analysis of two independent L. japonicus mutant alleles and investigated the regulation of ERN1 v

43 by amniocentesis to carry their family's RB1 mutant allele, and therefore scheduled for early-term de

44 ( approximately 60% of cases) and non-V600E mutant alleles ( approximately 40% of cases) such as BRA

45 e of African ancestry carrying certain APOL1 mutant alleles are at elevated risk of developing renal

46 Cells bearing individual mcd1 or smc3 mutant alleles are inviable and defective for both siste

47 es and characterizing their loss-of-function mutant alleles are needed to understand genotype-to-phen

48 ing schemes, mosaic founder animals carrying mutant alleles are outcrossed to produce F1 heterozygote

49 terozygotes, suggesting that mice with these mutant alleles are resistant to FA supplementation.

50 Arabidopsis ATRX mutant alleles are viable, but show developmental defect

51 m the infant confirmed the expression of the mutant allele at mosaic ratios.

52 Alternatively, MAGE can introduce precise mutant alleles at many loci for genome-wide editing or f

53 Mutant alleles at the LGS1 (LOW GERMINATION STIMULANT 1)

54 ype alleles (BnMS5(a) and BnMS5(c) ) and two mutant alleles (BnMS5(b) and BnMS5(d) ) that could induc

55 ease progression coupled with an increase in mutant allele burden (all four were on lenalidomide).

56 ignificant association was found between MPL-mutant allele burden greater than 50% and marrow fibrosi

57 splenomegaly but do not significantly reduce mutant allele burden in patients.

58 murine MPN models and induced reductions in mutant allele burden not observed with type I JAK inhibi

59 s symptomatic relief, it does not reduce the mutant allele burden or substantially reverse fibrosis.

60 of 62 MPL-mutated patients, the granulocyte mutant allele burden ranged from 1% to 95% and was signi

61 ase toxicity, and use of posttransplant JAK2-mutant allele burden to guide prophylactic immunotherapy

62 Clinically, the mutant allele burden was associated with overall surviva

63 The mutant allele burden was lower in JAK2-mutated than in C

64 iving clonal expansion, number of mutations, mutant allele burden, and concomitant nongenetic risk fa

65 mia or polycythemia vera were related to the mutant allele burden.

66 chronic ruxolitinib therapy markedly reduced mutant allele burden.

67 CALR and MPL mutant allele burdens were also reduced by 15 to 66%.

68 at selectively and efficiently disrupted the mutant allele, but not the wild-type Tmc1/TMC1 allele, i

69 obtained a transgenic T1 plant with four alc mutant alleles by the use of a single target sequence.

70 They also show that AD HIES-causing STAT3 mutant alleles can be dominant-negative even if the enco

71 ripotent stem cells (hPSCs) with knockout or mutant alleles can be generated using custom-engineered

72 e cells to determine which human SMN (huSMN) mutant alleles can function in the absence of flwt-Smn.

73 The YAP1 mutant-allele carrier frequency was 1.1% in patients wit

74 rter gene (pfcrt) at the expense of less fit mutant alleles carrying the CQ resistance (CQR) marker K

75 These mutant alleles cause subtle defects in ATP7A intracellul

76 ether delayed aging retards the effects of a mutant allele causing a Huntington's disease (HD)-like s

77 g the integrin alpha6beta1-binding-defective mutant allele Ccn1-dm on the Apoe(-/-) background were t

78 Arabidopsis CGEP null mutant alleles (cgep) had no visible phenotype but showe

79 The gain-of-function mutant allele chs3-2D exhibits severe dwarfism and const

80 lopment is differentially affected by RanGAP mutant allele combinations of increasing severity and re

81 Analyses of multiple Mu-induced bm2-Mu mutant alleles confirmed that this constitutively expres

82 Network for the Interpretation of Germ-Line Mutant Alleles consortium combines RT-PCR, exon scanning

83 At least four of 10 Mu-induced bm4 mutant alleles contain a Mu insertion in the GRMZM2G3933

84 Using this and two other mutant alleles, Crim1(null) and Crim1(cko), we show that

85 A >/= 5% mutant allele cutoff was used to call mutations.

86 subclonality analysis for mutations based on mutant allele data and copy number alteration data.

87 Enzymatic assay of these mutant alleles demonstrate that they greatly reduce the

88 Surprisingly, our approach using multiple mutant alleles demonstrates that hearing in zebrafish is

89 n of a wild-type human CD2AP gene, but not a mutant allele derived from a patient with CD2AP-associat

90 s, paternal and maternal transmission of the mutant allele did not cause any major effect on the surv

91 and will be useful for colony management as mutant alleles differing by a few nucleotides become mor

92 other carotenoid-deficient plants, zds/clb5 mutant alleles display profound alterations in leaf morp

93 Weak mutant alleles display reduced levels of plastid ribosom

94 Moreover, these same mutant alleles disrupted hp53 foci and inhibited biosens

95 oximately 60% of FL BRCA2 transcripts from a mutant allele does not cause any increase in cancer risk

96 The degree of risk depends on the specific mutant allele driving clonal expansion, number of mutati

97 lta (pol3-L612M) and Polepsilon (pol2-M644G) mutant alleles, each of which display a higher rate for

98 The presence of the Nce102 mutant alleles enabled formation of the mitochondrial re

99 The mutant alleles encode GP130 receptors bearing the transm

100 zing radiation exposure, suggesting that the mutant alleles encode hyperactive PPM1D isoforms.

101 experiments demonstrated that the variant's mutant allele enhances the production of miR-1229-3p.

102 ation of a novel HISTONE DEACETYLASE6 (HDA6) mutant allele (epigenetic control1, hda6-8).

103 Complementation analyses with mutant alleles established that PrgK bearing two hydrola

104 ent analyses of four independently generated mutant alleles established that rth6 encodes CSLD5 a pla

105 Nevertheless, starch-deficient ADGase mutant alleles exhibited partial CO2 responses, pointing

106 whole-exome sequencing and tested candidate mutant alleles experimentally.

107 us, differentiating mutations based on their mutant allele expression via MAXX represents a means to

108 All missense mutant alleles failed to rescue survival in the conditio

109 ypically require sustained expression of the mutant allele for survival, but the molecular basis of t

110 nvasive infections is the presence of a null mutant allele for the orphan kinase RocA.

111 A collection of mutant alleles for 11 maize (Zea mays) genes predicted t

112 We isolated two mutant alleles for a subunit of the NTC/Prp19 complexes,

113 Plants containing mutant alleles for components of the RNA-directed DNA me

114 ls that differentially express wild-type and mutant alleles for heterozygous mutations.

115 CR showed a ratio of nearly 1:1 wild-type to mutant alleles for most, but not all, mutations.

116 Using mutant alleles for the two ASF1 homologs, asf1a and asf1

117 The TP53 mutant allele fraction (TP53MAF) was compared to serum C

118 CAex.20/PTEN/AKT1 and RAS mutations with low mutant allele fraction, and multiplex polymerase chain r

119 ients with stage I, with 96% specificity for mutant allele fractions down to approximately 0.02%.

120 implications requires accurate estimation of mutant allele fractions from possibly duplicated sequenc

121 e levels of intra-tumour heterogeneity using mutant-allele fractions.

122 8 of the 18 (44%) subjects were mosaic with mutant allele frequencies of 0 to 19% in normal tissue D

123 Mutant allele frequencies ranged from 6% to 19% in affec

124 n results in a power-law distribution of the mutant allele frequencies reported by next-generation se

125 ent in the tissue adjacent to the cartilage [mutant allele frequency (MAF) 6-8%], and were enriched i

126 Mutant allele frequency at baseline was associated with

127 By analyzing mutant allele frequency distributions in tumors, we foun

128 xible prediction method to calculate initial mutant allele frequency in tissue biopsy and blood sampl

129 ) fusion gene (BCR-ABL1) assay down to 0.01% mutant allele frequency to highlight the platform's util

130 rectal cancer cell lines with increased KRAS mutant allele frequency were more sensitive to MAP kinas

131 in total cell-free DNA, as measured by TP53 mutant allele frequency, also affected assay sensitivity

132 demonstrated three individuals inherited the mutant allele from the CHS carrier male.

133 antly improved discrimination of mismatched (mutant) alleles from matched (wild-type) alleles, no eff

134 The mutant allele fuct-2 gave rise to similar developmental

135 Characterization of two athb15 mutant alleles further confirmed that functional AtHB15

136 Despite the single origin of the mutant allele Gmhs1-1, the distribution pattern of allel

137 This functional analysis suggested that the mutant allele has hypomorphic effects.

138 Approximately 200 BRAF mutant alleles have been identified in human tumours.

139 Comprehensive phenotypic studies of mutant alleles have been successful in model organisms i

140 Here we show that two different mouse Ildr1 mutant alleles have early-onset severe deafness associat

141 T116-MT), or parental cells with both WT and mutant alleles (HCT116-P).

142 There were 140 mutant alleles identified which were divided into four p

143 erine fetal demise exhibited the CALM3-E141K mutant allele in 25% of next-generation sequencing reads

144 lysis of either a weak lsm5 or a strong lsm4 mutant allele in Arabidopsis revealed larger effects on

145 ypes and demonstrated varying amounts of the mutant allele in different tissues.

146 trate independent emergence of the C580Y K13 mutant allele in Guyana, where resistance alleles to pre

147 a mechanism for phenotypic dominance of the mutant allele in HDLS.

148 Overexpression of a CHCHD10 mutant allele in HeLa cells led to fragmentation of the

149 A Cas9/CRISPR-induced mutant allele in mid1ip1l fails to complement the origin

150 CRISPR/Cas9-mediated disruption of the mutant allele in PF-382 cells markedly downregulated LMO

151 We did not observe this mutant allele in unaffected tissue or in affected tissue

152 ations of a set of mutant sites in a gene or mutant alleles in a genome.

153 Detection of rare mutant alleles in an excess of wild type alleles is incr

154 lasma identified increased representation of mutant alleles in association with emergence of therapy

155 In vivo, overexpression of ZMIZ1 mutant alleles in developing mouse brains using in utero

156 A search for orthologous mutant alleles in maize confirmed a very similar role of

157 ome editing technology for the generation of mutant alleles in mice.

158 ing has emerged as a powerful tool to create mutant alleles in model organisms.

159 ther with the ease of detecting somatic KRAS mutant alleles in patient samples, has spurred persisten

160 We show here that hsh155 mutant alleles in Saccharomyces cerevisiae, counterparts

161 hole-exome sequencing study, we report three mutant alleles in SEC24D, a gene encoding a component of

162 s, and we identify three recessive Ccalpha6 mutant alleles in the JW-100 s population: (i) Ccalpha6(

163 e level of expression from the wild-type and mutant alleles in variants NPM1.1 and NPM1.2.

164 during vertebrate development, we generated mutant alleles in zebrafish.

165 trong correlations between the presence of a mutant allele, in vitro parasite survival rates and in v

166 Molecular analysis identified 99% of mutant alleles, including 96 novel mutations.

167 reasingly severe phenotypes as the number of mutant alleles increased.

168 Our analysis of the unc-7 mutant allele indicates that when DOP-2 promotes UNC-7 e

169 Introduction of the two ace2 mutant alleles into the haploid parental strain led to s

170 les in HCT116 cells, and we showed that this mutant allele is subjected to the nonsense-mediated deca

171 hree groups based on their expression of the mutant allele, lack of expression from both alleles, or

172 we noted substantial variation in alternate (mutant) allele levels, ranging from ten (3%) of 377 read

173 used TALENs to generate five zebrafish abcd1 mutant allele lines introducing premature stop codons in

174 p2 GOF mutations, we used a Shp2 conditional mutant allele (LOF) and a cre inducible Shp2-Q79R GOF tr

175 three recessive zebrafish leviathan/col8a1a mutant alleles ((m531, vu41, vu105)) that disrupt collag

176 the model, we explore novel combinations of mutant alleles, making predictions that can be tested ex

177 synuclein synthesized from the wild-type and mutant alleles may influence the natural history and het

178 k by 80 years of age; however, the number of mutant alleles may play an important role in age at PD o

179 AEI promoting the overrepresentation of a mutant allele might also play a role in other autosomal-

180 ere, we identify a novel proteolysis6 (prt6) mutant allele, named greening after extended darkness1 (

181 Samples from homozygous mutant alleles now produce two bands, while those from w

182 effect, whereby seeds inheriting a maternal mutant allele occasionally aborted later in seed develop

183 mutants in Arabidopsis thaliana, we cloned a mutant allele of a gene that encodes a protein of unknow

184 The previously characterized L407F mutant allele of Arabidopsis cry1 is biologically hypera

185 using cells from Booreana mice which carry a mutant allele of c-Myb, we show that this interaction is

186 nts (sgb10-sgb13) identified, sgb11 is a new mutant allele of ESKIMO1 (ESK1), which encodes a plant-s

187 sensing mutants in C. elegans and isolated a mutant allele of glr-3 gene that encodes a kainate-type

188 We show that a single mutant allele of Kcc1 induces widespread sickling and ti

189 We identified a mutant allele of kinesin family member 7 (Kif7), the dis

190 that IVS9-2delA caused isoform switch in the mutant allele of mRNA isolated from patient lymphocytes.

191 Introduction of a single mutant allele of Nodal in the Tet mutant background part

192 We discovered a new spontaneous mutant allele of Npr2 named peewee (pwe) that exhibits s

193 chieved in maize by combining a semidominant mutant allele of oy1 (Oy1-N1989) and a cis-regulatory mo

194 d the phenotypes of rh3-4, a T-DNA insertion mutant allele of RH3.

195 LS mouse model caused by a different patient mutant allele of TDP-43, suggesting that they are genera

196 prisingly, however, enforced expression of a mutant allele of Tfr1 that is unable to serve as a recep

197 ere, we report isolation of cerk1-4, a novel mutant allele of the Arabidopsis chitin receptor CERK1 w

198 We have previously developed an engineered mutant allele of the critical T-cell kinase zeta-chain-a

199 We identified a new mutant allele of the F-box gene HAWAIIAN SKIRT (HWS; At3

200 etic enhancer screen to identify apum23-4, a mutant allele of the ribosome biogenesis factor (RBF) ge

201 We report a new mutant allele of VTI11 that implicates the SNARE protein

202 de C. elegans and analyze the effect of null mutant alleles of all members of the SoxB and SoxC group

203 Mutant alleles of Atlastin-1 found in Hereditary Spastic

204 study is the first to assess the function of mutant alleles of AURKC that affect human fertility in a

205 h the characterization of transposon-induced mutant alleles of Ca1 and Ca2 in maize (Zea mays).

206 Mutant alleles of cfs1 exhibit auto-immune phenotypes in

207 rized the phenotype of mice heterozygous for mutant alleles of Ets1 and Fli1.

208 We describe here mutant alleles of ftsZ in Streptomyces coelicolor and St

209 sis to identify genetic interactions between mutant alleles of nab2 and genes encoding the splicing f

210 Firstly, we created viable mutant alleles of NBP35 in Arabidopsis to overcome embry

211 Independent mutant alleles of nkd1 and nkd2, as well as nkd2-RNA int

212 resistance, we identified three Arabidopsis mutant alleles of PIC30 (PICLORAM RESISTANT30) that are

213 n of Plce (Plce(-/-)) and the other carrying mutant alleles of Plce unable to bind to Ras (Plce(RAm/R

214 gene T-DNA insertion lines revealed two null mutant alleles of PME34 (At3g49220) that both consistent

215 Of these five, only insertional mutant alleles of RGP2, a gene that encodes a UDP-arabin

216 Mutant alleles of ROCK1 suppress phenotypes inferred by

217 r families in which deafness segregates with mutant alleles of TBC1D24 were available for neurologica

218 ss of habenular asymmetry, we identified two mutant alleles of tcf7l2, a gene that encodes a transcri

219 ptibility to multiple sclerosis and the rare mutant alleles of the CYP27B1 gene responsible for autos

220 We identified mutant alleles of the genes encoding subunits of the rib

221 Shotgun lipidomics analysis performed on mutant alleles of the polarity regulator crumbs, exhibit

222 ins we generated mice with targeted deletion mutant alleles of Tmc6 or Tmc8 Either TMC6 or TMC8 defic

223 es resulted in the identification of two new mutant alleles of TWISTED DWARF 1 (TWD1), twd1-4, and tw

224 We identify five independent mutant alleles of VIR in over 400 accessions from sub-Sa

225 Here we report that mice bearing mutant alleles of Yap and its paralog WW domain containi

226 ant role in its repair function, as targeted mutant alleles of yejH did not rescue sensitivity.

227 investigated the impact of the Trp53(R172H)-mutant allele on epithelial ovarian cancer (EOC) in vivo

228 special class of genetic complementation of mutant alleles on homologous chromosomes.

229 Introduction of these mutant alleles on the P. aeruginosa chromosome show that

230 Although harboring different mutant alleles, patients presented remarkably similar ph

231 ty and reduced transmission frequency of the mutant alleles pointed to a dual role, sporophytic and g

232 In contrast, the other mutant allele produces a protein with a single amino aci

233 cohesin complexes, each harboring one of the mutant allele products.

234 High KIT mutant allele ratios defined a group of t(8;21) AML pati

235 nts with poor prognosis, whereas high N/KRAS mutant allele ratios were associated with the lack of KI

236 developed a yeast model to validate all the mutant alleles reported so far.Our findings show that th

237 We acquired phenotype data from 449 mutant alleles, representing 320 unique genes, of which

238 Such mutant alleles result presumably from nonhomologous end-

239 ultiorgan inflammation and two copies of the mutant allele resulted in increased mortality accompanie

240 - plants display abnormal segregation of the mutant allele resulting from defects in pollen tube deve

241 expression of the mitochondrial IDP1(R148H) mutant allele results in high levels of 2HG production a

242 the characterization of a specific TOP3alpha mutant allele revealed that, in addition to its role in

243 Intriguingly, carriers of a mutant allele seem to show protection against carotid wa

244 -Cas9-mediated replacement of WT KRAS with a mutant allele sensitized heterozygous mutant HCT116 cell

245 Plants carrying Athemn1 mutant alleles showed defects in gametophyte development

246 rences disappear in the presence of G9a null mutant alleles, showing that G9a is necessary for these

247 ousands of genes, the majority of which were mutant allele specific and were not observed upon estrog

248 pots with widespread lineage-, position- and mutant allele-specific differences, many of which are li

249 protein, unequivocally indicating permanent mutant allele-specific inactivation of the HD mutant all

250 We hypothesized that a mutant allele-specific small interfering RNA could rescu

251 exacerbated in combination with taz (wwtr1) mutant alleles such that, when Yap and Taz are both abse

252 Furthermore, analyses of other mutant alleles suggest how the stereoelectronics of the

253 A mutant allele, sup70-65, induces pseudohyphal growth on

254 tive advantage for clones that have lost the mutant allele support the postulated role of SAMD9L in t

255 HSF1 activity via the ectopic expression of mutant alleles support the ability of AKT to activate HS

256 the okra allele and that normal is a derived mutant allele that came to predominate and define the le

257 Cells carrying a mukB mutant allele that encodes a protein that does not inter

258 ia a suppressor screen, we identify two phyB mutant alleles that revert the dwarf and high salicylic

259 we used a combination of Aicda and antibody mutant alleles that separate the effects of CSR and SHM

260 Furthermore, analyses of mutant alleles that separate the transcriptional repress

261 Here, we characterized two hda6 mutant alleles that were recovered as second-site suppre

262 r types harbor predominantly the BRAF(V600E)-mutant allele, the spectrum of BRAF mutations in LA incl

263 Like other hos1 mutant alleles, the hos1-7 mutant flowered early and was

264 dge of the regulation of these TFs and their mutant alleles, their interaction with other genes and p

265 We find the NLRP1 mutant allele to be gain of function (GOF) for inflammas

266 induced local lesions in genomes for induced mutant alleles, transgene-induced complementation, and a

267 e sequencing (WES) of bulk tumor DNA, called mutant-allele tumor heterogeneity (MATH).

268 Replacement of ibpA with these mutant alleles unable to bind myo-inositol abolishes C.

269 Biallelic loss-of-function mutant alleles underlie several different immunologic an

270 s evaluated using RNA-seq in the strong lsm4 mutant allele used in this study.

271 er of our novel strategy of inactivating the mutant allele using haplotype-specific CRISPR/Cas9 targe

272 engineering process was specific for the XID mutant allele versus the wild-type (WT) allele, and exhi

273 ral methods for selective amplification of a mutant allele via the polymerase chain reaction (PCR) ha

274 The extended mutant allele was identified as a homolog of Pho4, a fam

275 found that myo2-S1 (myo2-G515D), a Myosin II mutant allele, was capable of rescuing lethality caused

276 embers of this family was homozygous for the mutant allele, we only could hypothesized its putative i

277 frequency and unusual nature of some of the mutant alleles, we carried out ultra-deep next generatio

278 Mutant alleles were associated with lesions of 1-7 bp sp

279 ; however, in most of the HCCs, the weak S45 mutant alleles were duplicated, resulting in a final hig

280 Mutant alleles were enriched in endothelial cells and we

281 s found by WES and WGS, to determine whether mutant alleles were enriched in endothelial or non-endot

282 A very limited number of short-culm mutant alleles were introduced into commercial crop cult

283 y of the two reverse genetics platforms, two mutant alleles were isolated for each of the two floral

284 Athemn1 mutant alleles were transmitted via both male and female

285 iding mouse strains or stocks carrying these mutant alleles when studying new retinal disorders is re

286 ctive dimers with the exception of BRAF V600 mutant alleles which can function as active monomers(1).

287 In yeast, the pol3-01,L612M double mutant allele, which causes defects in DNA polymerase de

288 t in the 3' untranslated region (UTR) of the mutant allele, which disrupts the most distal of two pol

289 Here, mutant alleles, which are flanked by regions of homology

290 We show that combining a vrs3 mutant allele with natural six-rowed alleles of VRS1 and

291 hat founders containing transplants transmit mutant alleles with high efficiency.

292 ng mutations, and will help in the design of mutant alleles with minimal transcriptional adaptation-d

293 unction in muscle growth, we generated three mutant alleles with reading frame shift mutations in the

294 However, the RetGC1 mutant alleles with remaining biochemical activity in vi

295 PCR products generated from wild-type versus mutant alleles with small indels based on size is beyond

296 each compound heterozygous for two of these mutant alleles, with c.3044C>T being embedded in a 14 Mb

297 Instead, two tt7 mutant alleles, with defects in a branchpoint enzyme blo

298 ased genome editors can correct two distinct mutant alleles within a single human cell precisely.

299 e, resulting in complete inactivation of the mutant allele without impacting the normal allele.

300 istinct bands, while homozygous wild-type or mutant alleles yield a single band.