ライフサイエンスコーパス: mutant allele

1 amples due to the expression of the H3.3K27M mutant allele.

2 tly found Pik3ca(H1047R) (Pik3ca(e20H1047R)) mutant allele.

3 ndicate selection against cells carrying the mutant allele.

4 t target the expanded CAG repeats within the mutant allele.

5 carrier haplotypes possessed one copy of the mutant allele.

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

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

8 ings were either heterozygotes or lacked the mutant allele.

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

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

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

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

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

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

15 te variants and revealed missplicing for the mutant alleles.

16 suppress the spore viability defects of hop1 mutant alleles.

17 mice and humans expressing orthologous TP53 mutant alleles.

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

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

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

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

22 ded evidence for decreased expression of the mutant alleles.

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

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

25 generated animals carrying regulatable Fbxw7 mutant alleles.

26 s of multiple independent transposon induced mutant alleles.

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

28 ignature in terms of sample distributions of mutant alleles.

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 oth maternal and paternal inheritance of the mutant allele and are therefore due to an effect on bial

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

37 In addition, we generated mice that have one mutant allele and one null allele at the Tgfb1 locus, re

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

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

40 A total of 83% of the autosomal dominant mutant alleles and 40% of the X-linked mutant alleles oc

41 All mutant alleles and data are available to the community a

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

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

44 Metabolite analysis of mutant alleles and heterologous expression demonstrate t

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

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

47 Because new mutant alleles appear in a population at the lowest poss

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

49 TRIT1 is a tumor suppressor whose mutant alleles are associated with cancer progression.

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

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

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

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

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

55 results challenge the hypothesis that triple mutant alleles arose from a single lineage in the Southe

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

57 spectrum of clinical expression conveyed by mutant alleles at a locus can be better appreciated.

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

59 utations in mice already bearing one or more mutant alleles at other genetic loci without the need fo

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

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

62 ions at therapy onset had a higher JAK2V617F mutant allele burden and a less significant reduction in

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

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

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

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

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

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

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

70 using a high-resolution melt assay, and the mutant allele burden was evaluated by using deep sequenc

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

72 rs were lowered and a slight decrease of the mutant allele burden was noted.

73 No significant decrease in the mutant allele burden was observed.

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

75 chronic ruxolitinib therapy markedly reduced mutant allele burden.

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

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

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

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

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

81 These mutant alleles cause subtle defects in ATP7A intracellul

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

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

84 pe Arg-405 CGC allele but transmitted an AGC mutant allele coding for Ser-405.

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

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

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

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

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

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

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

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

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

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

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

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

97 Weak mutant alleles display reduced levels of plastid ribosom

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

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

100 Mice with various p53 mutant alleles either singly or in combination with othe

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

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

103 All four in-frame IFNGR2 hypomorphic mutant alleles encoding surface-expressed receptors are

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

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

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

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

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

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 rage, to provide the research community with mutant alleles for each of the worm's more than 20,000 g

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

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

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

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

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

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

121 ned and validated a SGS protocol to quantify mutant allele frequencies in the Plasmodium falciparum g

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

123 ations in PIK3CA in all six individuals, and mutant allele frequencies ranged from 3% to 30% in affec

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

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

126 ooled from individual isolates, we estimated mutant allele frequencies that were closely correlated t

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

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

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

130 odel key determinants of accuracy, including mutant allele frequency, indel length and amplitude of c

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

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

133 ings suggest that despite the common loss of mutant allele function, each mutation produced different

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

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

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

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

138 Two independent rao1 mutant alleles identified CDKE1 as a central nuclear com

139 Fourteen of the 16 mutant alleles identified were previously unknown.

140 Whether or not a mutant allele in a population is under selection is an i

141 The prevalence of the mutant allele in affected tissues ranged from 1.0 to 18.

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

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

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

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

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

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

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

149 was identified as the first viable recessive mutant allele in the glutathione synthetase gene.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

164 Molecular analysis of the mutant allele indicated a total loss of function, with n

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

166 We found that a high proportion of these mutant alleles induce chloroplast biogenesis during deet

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

168 We show that the mutant allele is intrinsically loss-of-function and not

169 Two mutant alleles (l11Jus1 and l11Jus4), which fall into th

170 ermore, while ectopic overexpression of sgrS mutant alleles lacking only one of the two functions res

171 bilizes CYFIP2, and deletion of the C57BL/6N mutant allele leads to acute and sensitized cocaine-resp

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

182 inant mutant alleles and 40% of the X-linked mutant alleles occurred de novo.

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

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

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

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

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

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

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

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

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

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

197 resented indicate that the jal mutation is a mutant allele of the Gata3 gene on mouse Chromosome 2.

198 viors were assessed in mice harboring a null mutant allele of the nicotinic acetylcholine receptor (n

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

200 f TALENs to rapidly and efficiently generate mutant alleles of 15 genes in cultured somatic cells or

201 A variety of mutant alleles of A14 and A17 were tested for their abil

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

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

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

205 Mutant alleles of cfs1 exhibit auto-immune phenotypes in

206 disrupted or restricted to certain organs in mutant alleles of core components of the JA pathway incl

207 anscription factor DAF-16, we isolated three mutant alleles of dpy-21, which encodes a conserved DCC

208 equired only for male fertility, and several mutant alleles of each such gene were encountered.

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

210 We isolated two mutant alleles of HOP2 (hop2-2 and hop2-3) that retained

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

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

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

214 equencing revealed the expression pattern of mutant alleles of NRF2, CUL3, and SIRT1 and also confirm

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

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

217 In this study, we characterized mutant alleles of rbc3alpha isolated from a large-scale

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

219 Mutant alleles of ROCK1 suppress phenotypes inferred by

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

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

222 hannels (CNGCs), we identified a total of 29 mutant alleles of the chimeric AtCNGC11/12 gene that ind

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

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

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

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

227 tion allele of ethylene overproducer1 (ETO1; mutant alleles of which cause increased production of et

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

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

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

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

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

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

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

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

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

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

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

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

240 Such mutant alleles result presumably from nonhomologous end-

241 ent of the hp1043 allele with the hp1043CC11 mutant allele resulted in a 2-fold decrease in protein l

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

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

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

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

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

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

248 fect to mismatch repair in vivo, while three mutant alleles showed a dominant negative increase in mu

249 Plants carrying Athemn1 mutant alleles showed defects in gametophyte development

250 In vitro analyses of the mutant alleles showed that in addition to the major trun

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

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

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

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

255 Here we designed a set of five SUP35 mutant alleles (sup35(KK)) with lysine substitutions in

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

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

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

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

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

261 zinc requirement was complemented by a Tsa1 mutant allele that retained only chaperone function.

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

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

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

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

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

267 These mice transmitted the mutant alleles to the progeny with 100% efficiency, allo

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

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

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

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

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

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

274 afish development by generating several cftr mutant alleles using TAL effector nucleases.

275 ll known that the selection coefficient of a mutant allele varies from generation to generation, and

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

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

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

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

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

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

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

283 Mutant alleles were enriched in endothelial cells and we

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

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

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

287 and the T(1) progeny homozygous for the ms26 mutant alleles were male-sterile.

288 Athemn1 mutant alleles were transmitted via both male and female

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

290 genital glaucoma family possessed homozygous mutant alleles, whereas 6 families carried compound hete

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

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

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

294 is to selectively suppress expression of the mutant allele while preserving expression of the wild-ty

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

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

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

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

299 gain-of-function was a common feature of the mutant alleles, with many additional genes uniquely dysr

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