ライフサイエンスコーパス: homozygous mutant

1 to 47% for heterozygotes, and 12 to 15% for homozygous mutant.

2 by broken and misplaced walls in its lethal homozygous mutant.

3 of both trabecular and cortical bone mass in homozygous mutants.

4 d normal brain structure in heterozygous and homozygous mutants.

5 nting sperm discharge and the development of homozygous mutants.

6 etic stem cell differentiation also affected homozygous mutants.

7 and postnatal lethality in one third of the homozygous mutants.

8 ficient was significantly higher than in p53 homozygous mutants.

9 is down-regulated in the compound p27(kip1) homozygous mutants.

10 ) isoform (Hdl-Myo10) was still expressed in homozygous mutants.

11 cessfully scored wild type, heterozygous and homozygous mutants.

12 ull allele of the Skt/Etl4 gene and analysed homozygous mutants.

13 tions in fga were raised and bred to produce homozygous mutants.

14 ombination of double heterozygous and double homozygous mutants.

15 ethylation patterns which are lost in Smchd1 homozygous mutants.

16 l cloning strategy, we discovered that these homozygous mutant alleles contain non-conservative misse

17 Samples from homozygous mutant alleles now produce two bands, while t

18 primary congenital glaucoma family possessed homozygous mutant alleles, whereas 6 families carried co

19 ease in alphaA and alphaB transcripts in the homozygous mutant alpha A(Y118D/Y118D) lenses.

20 Homozygous mutants also experience leukoencephalopathy i

21 Analysis of homozygous mutants also highlights a role for Tbx2 durin

22 of pgd2 transfer (T-)DNA alleles yielded no homozygous mutants, although siliques and seeds of heter

23 e, primary cilia were absent or malformed in homozygous mutant and heterozygous embryos, respectively

24 of MHC class II on cTEC was also similar in homozygous mutant and wild-type animals, and invariant c

25 diate level of protection when compared with homozygous mutant and wild-type littermates.

26 At 6 mo of age, despite normal body size, homozygous mutant animals (Nbr1(tr/tr)) have approximate

27 P biogenesis is surprisingly unaffected, and homozygous mutant animals are completely viable.

28 largely dispensable for ciliogenesis; kif17 homozygous mutant animals are viable and display subtle

29 Despite this significant reduction, homozygous mutant animals are viable on a mixed 129P2/B6

30 Homozygous mutant animals die as pupae, but lethality is

31 Homozygous mutant animals die on the first postnatal day

32 nt in Purkinje neurons from heterozygous and homozygous mutant animals suggested partial compensatory

33 Plasticity in homozygous mutant animals was as stable as that measured

34 ally compromised, as seminiferous tubules of homozygous mutant animals were devoid of post-meiotic ge

35 at standard chow when either heterozygous or homozygous mutant animals were presented with dietary va

36 rthermore, increased vitamin D activities in homozygous mutants are associated with severe atheroscle

37 Homozygous mutants are viable and fertile with only mino

38 alleles clearly demonstrate that adult Smad8 homozygous mutants are viable and fertile.

39 While germline Smoc2 homozygous mutants are viable, tooth number anomalies, r

40 ver-expression of AtBI1 transgene in the two homozygous mutant backgrounds rescued the accelerated ce

41 for their synthesis is embryonic lethal, but homozygous mutant blastocysts are phenotypically normal

42 In the homozygous mutants bone is found to penetrate the tooth,

43 Interestingly, three independent homozygous mutants carrying T-DNA insertions in CHX20 sh

44 This protocol allows generation of homozygous mutant cell lines using an insertion cassette

45 However, we failed to obtain homozygous mutant cell lines.

46 Labeled homozygous mutant cells can be generated in an otherwise

47 S cells to generate a genome-wide library of homozygous mutant cells from heterozygous mutations indu

48 number and used these to isolate these rare homozygous mutant cells independent of their phenotype.

49 rtant contributions of TSC2 heterozygous and homozygous mutant cells to the pathogenesis of TSC and t

50 and calcium release responses are present in homozygous mutant cells, indicating that the observed mo

51 of wild-type, V617F-heterozygous, and V617F-homozygous mutant cells.

52 mitotic recombination to generate patches of homozygous mutant cells.

53 perating in those with small or undetectable homozygous-mutant clones.

54 Homozygous mutant (cmd(bc)/cmd(bc)) embryos exhibited se

55 ncisional wounds were made on Col1a1(tm1Jae) homozygous mutant (Col1a1(r/r)) and wild-type (Col1a1+/+

56 Homozygous-mutant colonies were common in patients with

57 in the dark was sharply diminished in maize homozygous mutant compared to normal leaves but not to t

58 ecrease in bumblebee visitation rate for the homozygous mutant compared to the wild-type.

59 IGLE density was significantly different in homozygous mutants compared with wild types, exhibiting

60 Smn protein levels were low/undetectable in homozygous mutants consistent with unstable protein prod

61 t ovule growth, whereas double eif4a1 eif4a2 homozygous mutants could not be recovered, indicating th

62 bel on the right, which should read "Labeled homozygous mutant daughter cell".

63 arlier findings of a normal phenotype in the homozygous mutant deficient of the plastid glycerol-3-ph

64 urine keratitis model using Candida albicans homozygous mutants deficient in one or more secreted asp

65 Both hetero- and homozygous mutants demonstrate an altered behavioral res

66 ted SMAD2 and p21 levels were lowered in the homozygous mutant, demonstrating a suppression of the TG

67 homozygous H304R/R mouse, which is the first homozygous mutant DHC mouse to survive past the neonatal

68 The dVps28 gene is essential: homozygous mutants die at the transition from the first

69 Homozygous mutants die in utero between e14.5 and e15.5

70 On certain genetic backgrounds, homozygous mutants die perinatally from severe hydroceph

71 Homozygous mutants died shortly after birth with an obvi

72 sides of the pallio-subpallial boundary, Tlx homozygous mutants display alterations in the developmen

73 However, zebrafish trpm7 homozygous mutants display death of melanophores and tem

74 lated a zebrafish opa3 null allele for which homozygous mutants display increased MGC levels, optic n

75 Both homozygous mutants displayed decreased binding to collag

76 Her9 homozygous mutants displayed striking retinal phenotypes

77 Homozygous mutants (dn/dn and Bth/Bth) never showed CAP

78 Homozygous mutant dronc animals die during pupal stages;

79 chea and palate defects were observed in the homozygous mutant embryos at multiple stages of developm

80 Homozygous mutant embryos carry a C->A transversion, tha

81 Homozygous mutant embryos derived from eggs lacking Pofu

82 However, homozygous mutant embryos develop normally and adults ar

83 Homozygous mutant embryos develop normally into the mid-

84 Homozygous mutant embryos developed normally until embry

85 m, and implanted (E4.5), suggesting that the homozygous mutant embryos die between E4.5 and E7.5.

86 Homozygous mutant embryos die in mid-gestation and the f

87 The homozygous mutant embryos display an open anterior neura

88 Homozygous mutant embryos display vascular remodeling de

89 Homozygous mutant embryos do not survive to birth and di

90 etically interact in this lineage, as double-homozygous mutant embryos exhibit an overt facial clefti

91 Line2F homozygous mutant embryos fail to close the neural tube,

92 Analysis of homozygous mutant embryos from 18 litters yielded 25% wi

93 in neuroblast proliferation was observed in homozygous mutant embryos prior to lethality.

94 Histological analysis of homozygous mutant embryos revealed that they had a disor

95 Analysis of cds homozygous mutant embryos reveals high levels of polyplo

96 s to pleiotropic morphological phenotypes in homozygous mutant embryos starting at 3 days post fertil

97 In homozygous mutant embryos, mitoses are disorganized with

98 entity, ACR4 and ATML1, are not expressed in homozygous mutant embryos.

99 Homozygous-mutant embryos for the ENU-induced open mind

100 ls, are absent in the splenic anlage of Pbx1 homozygous mutant (-/-) embryos, implicating the TALE ho

101 The postnatal survival of homozygous mutants enabled us to evaluate the response t

102 ally, we demonstrate that Smad2;Smad3 double homozygous mutants entirely lack mesoderm and fail to ga

103 nd tissue apoptosis, and, strikingly, Blimp1 homozygous mutants entirely lack PGCs.

104 Furthermore, Ago2 homozygous mutant ES cells provide a null genetic backgr

105 and Msx1 mutations and observed that double homozygous mutants exhibit an incompletely penetrant cle

106 ene dosage-dependent growth restriction, and homozygous mutants exhibit upper GU defects at a microdi

107 Pbx1 homozygous mutants exhibited delayed or absent formation

108 Lrp5;Lrp6 double homozygous mutants fail to establish a primitive streak,

109 Unexpectedly, homozygous mutant female embryos were more severely affe

110 ell stage arrest of embryos derived from the homozygous mutant female gamete.

111 The majority of homozygous mutant females also died of dystocia in a mat

112 Homozygous mutant females are sterile and show defects i

113 age, and heterozygous (5-HT3Avs/+) males and homozygous mutant females died at 4-6 months of age from

114 RanBPM homozygous mutant females displayed a premature ovarian

115 Offspring from Bsx homozygous mutant females exhibited a low survival rate

116 s and homozygous mutant offspring from Dmbx1 homozygous mutant females exhibited a low survival rate

117 ver, even wild-type pups fostered onto Dmbx1 homozygous mutant females grew poorly, suggesting a Dmbx

118 Homozygous mutant fish from two of these lines were viab

119 was undetectable in plasma preparations from homozygous mutant fish.

120 Homozygous mutant flies are viable and appear morphologi

121 Adult zebrafish homozygous mutant for disc1 show aberrant behavioural re

122 Using two lines of zebrafish homozygous mutant for disc1, we investigated behaviour a

123 facial development, and mice that are single homozygous mutant for either gene exhibit cleft palate a

124 Cells homozygous mutant for mRpL12 have reduced mitochondrial

125 Animals homozygous mutant for p66 display defects during metamor

126 Despite wide Pbx2 expression, mice homozygous mutant for Pbx2 are born at the expected Mend

127 Here we show that the mice homozygous mutant for SEL1L were embryonic lethal.

128 Here we report that homozygous mutants for flexo (Fxo), a hypomorphic allele

129 Homozygous mutants from all three alleles were smaller a

130 els were generated by backcrossing the above homozygous mutant GCase mice into Saposin C deficient (C

131 ir-rule segmentation defects in embryos from homozygous mutant germ-line mothers.

132 e can be largely ascribed to RNR1, for which homozygous mutants germinate only on sucrose-containing

133 Homozygous mutant (Gne(M712T/M712T)) mice did not surviv

134 , followed by brother-sister cross to get F2 homozygous mutant (hairless) or wild-type (haired) mice.

135 /neonatal lethality with rapid resorption of homozygous mutants, hampering additional studies.

136 Homozygous mutants have less enzyme activity (14% of wil

137 The homozygous mutants have middle and inner ear defects and

138 Brdp/brdp homozygous mutants have significant thinning of the cort

139 The nonmyocytes in B-/B- hearts and homozygous mutant hearts, all of which contain NMHC II-A

140 DA, we isolated myocardium from either WT or homozygous mutant (HM) rats that express a giant splice

141 3 was also observed in TSC2 heterozygous and homozygous mutant human stem cells, suggesting that the

142 The sterile aug7-1 homozygous mutant in which AUG7 expression is significan

143 Obtaining random homozygous mutants in mammalian cells for forward geneti

144 n and neuromuscular junction degeneration in homozygous mutants in parallel with improved motor funct

145 Surprisingly, engineered homozygous mutants in zebrafish have no apparent phenoty

146 ensitivity of 96% and was able to detect all homozygous mutants included in the collection of strains

147 topic endoderm staining were observed in the homozygous mutants, indicating that loss of brachyury re

148 Electron microscopy of homozygous mutant indirect flight muscles showed normal

149 Whereas homozygous mutants individually affecting the four RAD23

150 lay obvious phenotypic abnormalities, double-homozygous mutant individuals could not be created due t

151 ll survival to adulthood of heterozygous and homozygous mutants is decreased.

152 Homozygous mutant knock-in mice with this mutation (Col8

153 tions in zc4h2 were created in zebrafish and homozygous mutant larvae exhibited abnormal swimming, in

154 Cx50D47A does not traffic properly, and homozygous mutant lenses show increased levels of the st

155 However, mutant Opa3 mRNA was upregulated in homozygous mutant lenses, suggesting a compensatory incr

156 Pollen grains from homozygous mutant lines displayed a significant delay in

157 n double heterozygotes, but all three double homozygous mutant lines exhibit early mortality and typi

158 Characterization of homozygous mutant lines with and without the FAH12 trans

159 Homozygous mutant maize plants exhibited a yellow leaf p

160 igh incidence of bacterial infections in the homozygous mutant males suggests an immune dysfunction;

161 In homozygous mutant males, this reduction in survival is p

162 (I) collagen mRNA decreased significantly in homozygous mutant MEFs as well as HSCs; intracellular an

163 We found that WHSC1 homozygous mutant MEFs reveal an alteration in balance o

164 vely acetylated throughout the cell cycle in homozygous mutant MEFs.

165 our knowledge, the largest resource of hemi/homozygous mutant mES cells to date and is available to

166 ca7 as the top down-regulated gene in Zbtb24 homozygous mutant mESCs, which can be restored by ectopi

167 We showed that homozygous mutant mice (Brca1(FL/FL)) were born at a Men

168 As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations a

169 Analysis of homozygous mutant mice (termed ACE 7/7) showed normal pl

170 After 12-18 days of age, the homozygous mutant mice all exhibit myoclonic seizures ac

171 As a consequence, although Msh2(G674A) homozygous mutant mice are highly tumor prone, the onset

172 Hip1r homozygous mutant mice are viable and fertile without ob

173 Surprisingly, the homozygous mutant mice are viable and phenotypically nor

174 Gas2 homozygous mutant mice are viable but have severely impa

175 gotes gave rise to viable, apparently normal homozygous mutant mice at a normal Mendelian ratio.

176 Although homozygous mutant mice can be generated by breeding, a r

177 ut not cortical, neurons from presymptomatic homozygous mutant mice carrying 150Q huntingtin knock-in

178 Homozygous mutant mice carrying this mutation developed

179 Here we show that MEX3C deficiency in Mex3c homozygous mutant mice causes postnatal growth retardati

180 Pkd1m1Bei homozygous mutant mice demonstrated delayed endochondral

181 In both heterozygous and homozygous mutant mice derived from these mESCs, the sam

182 We find that the homozygous mutant mice develop extreme obesity, insulin

183 Homozygous mutant mice develop lethal postnatal inflamma

184 Homozygous mutant mice developed dense nuclear cataracts

185 Homozygous mutant mice developed less liver fibrosis.

186 Within 1.5 years, nearly half of homozygous mutant mice developed profound mucosal hyperp

187 generated a Nek8-null allele and found that homozygous mutant mice die at birth and exhibit randomiz

188 Homozygous mutant mice die in the first few days after b

189 Homozygous mutant mice die perinatally showing a greatly

190 Homozygous mutant mice died at midgestation, before embr

191 Some Dmbx1 homozygous mutant mice died during the neonatal period,

192 Isoform-specific Shank3(e4-9) homozygous mutant mice display abnormal social behaviors

193 Unstressed adult Pitx2 homozygous mutant mice display variable R-R interval wit

194 In contrast to the accepted concept that p53 homozygous mutant mice do not accumulate mutant p53 in n

195 eoblastogenesis in these cells, and PKCdelta homozygous mutant mice exhibit a deficit in embryonic bo

196 Homozygous mutant mice exhibit earlier seizure onset tha

197 th Kcnq2(A306T/A306T) and Kcnq3(G311V/G311V) homozygous mutant mice exhibited early onset spontaneous

198 Homozygous mutant mice exhibited early postnatal lethali

199 ted by slit-lamp examination, the corneas of homozygous mutant mice exhibited histological and ultras

200 Homozygous mutant mice failed to produce enamel.

201 We generated conditional homozygous mutant mice for a gene we termed Stumpy.

202 Homozygous mutant mice had an abnormal gait and difficul

203 Rather, homozygous mutant mice had glomerular hematuria, protein

204 Homozygous mutant mice had no detectable auditory brains

205 nversely, osteoblasts derived from Pkd1m1Bei homozygous mutant mice had significant reductions in end

206 Homozygous mutant mice harbor a missense mutation M105I

207 nd mammalian menorin homologue, Fam151a, and homozygous mutant mice have no discernible phenotype.

208 Tgif1 homozygous mutant mice have significantly raised auditor

209 Homozygous mutant mice have undetectable beta-mannosidas

210 p53 homozygous mutant mice have unstable mutant p53 in norma

211 ical analysis of hearts of 7- and 10-day-old homozygous mutant mice indicated an impaired CaM inhibit

212 The phenotype of homozygous mutant mice Lig4(R278H/R278H) (Lig4(R/R)) inc

213 sis was done on wild-type, heterozygous, and homozygous mutant mice on a pure C57BL/6 background.

214 Homozygous mutant mice on C57BL/6 background were grossl

215 on of the equivalent murine element to yield homozygous mutant mice revealed embryonic lethality late

216 All heterozygous and homozygous mutant mice show macrothrombocytopenia with p

217 Homozygous mutant mice showed an increased ratio of hear

218 Homozygous mutant mice showed hypersusceptibility to inf

219 Both heterozygous and homozygous mutant mice showed many NS-associated pheno-t

220 Analysis of the brains of homozygous mutant mice showed significant defects in neu

221 he number of surviving GCs in late embryonic homozygous mutant mice was compared to GC counts in hete

222 Wild-type and heterozygous and homozygous mutant mice were bled to determine basal leve

223 Bsx homozygous mutant mice were born at the expected Mendeli

224 Homozygous mutant mice were completely viable despite ex

225 Homozygous mutant mice were phenotypically normal but we

226 Homozygous mutant mice were viable and fertile.

227 Analysis of tumors from p53 homozygous mutant mice with stable p53 revealed defects

228 ity, cardiac defects, and NS features of the homozygous mutant mice, demonstrating that this signalin

229 utation resulted in DNA repair deficiency in homozygous mutant mice, it did not affect the MMR-mediat

230 In either Egr1/Egr3 or Egr1/Egr2 double homozygous mutant mice, macrophage differentiation and f

231 ance regulator (CFTR) cellular processing in homozygous mutant mice, restoring nasal potential differ

232 t loss, and intestinal inflammation occur in homozygous mutant mice.

233 studies were performed with heterozygous and homozygous mutant mice.

234 - and b-waves were reduced proportionally in homozygous mutant mice.

235 .1 +/- 0.4 mV hyperpolarization in DeltaF508 homozygous mutant mice.

236 body temperatures and increased lethality in homozygous mutant mice.

237 mpaired due to diminished insulin release in homozygous mutant mice.

238 shell phenotype also observed in progeny of homozygous mutant mothers.

239 We constructed a homozygous mutant mouse ES cell line in the Traf2 gene t

240 Homozygous mutant Nphp4(nmf192/nmf192) mice do not exhib

241 entation with increased incidence of NTDs in homozygous mutants, occurrence of NTDs in heterozygous e

242 ne of three human isolates of C. albicans, a homozygous mutant of the pH-dependent filamentation gene

243 ples, comprising wild-type, heterozygous and homozygous mutants of all three loci, with 100% accuracy

244 ian glucose homeostasis, as heterozygous and homozygous mutants of Ck1alpha in the murine adipose lin

245 Double-homozygous mutants of tardbp and tardbpl show muscle deg

246 Both heterozygous and homozygous mutant offspring from Dmbx1 homozygous mutant

247 repressible cell marker; i.e., GFP-labeled, homozygous mutant) on all major autosomal arms ( approxi

248 ritin levels more than 1000 microg/L; 24 had homozygous mutant or compound heterozygous mutant HFE ge

249 carrying a WT p53 allele when compared with homozygous mutant p53 isogenic cells.

250 elial tumors have not been documented in p53 homozygous mutant (p53-/-) mice, probably because they d

251 om a related species A. suecica and generate homozygous mutant plants from strong maternal gametophyt

252 Analysis of homozygous mutant plants generated from embryo-rescue ex

253 The eif4a homozygous mutant plants were slow-growing, and exhibite

254 RNAs; miR159, -167, and -171) are reduced in homozygous mutant plants, and levels of two of three tes

255 As anticipated, homozygous mutant plants, in which OsSBEIIb was complete

256 A T-DNA knock-out line did not segregate homozygous mutant plants, only heterozygots hsfB2a-tt1/+

257 ction often interfere with the generation of homozygous mutant plants, precluding further functional

258 en dgat1 and plip1 failed to generate double-homozygous mutant plants.

259 len donor or when a mixture of wild-type and homozygous mutant pollen was used.

260 MLPH homozygous mutant quail exhibited gray plumage, whereas

261 After four weeks on an 8% NaCl diet, homozygous mutant rats had lower mean arterial (149 +/-

262 The TMEM67 homozygous mutant rats have severe ventriculomegaly as w

263 Homozygous mutant rats showed normal CD8a and CD8b messe

264 adults show no evidence of neoplasia, while homozygous mutant rb1-/- are larval lethal.

265 Strikingly, in dnmt1 homozygous mutants, reactivation of gfp expression occur

266 While viable homozygous mutant (SAFB1-/-) mice were obtained, genotyp

267 Homozygous mutant seedlings and callus tissue produced f

268 d germination phenotype is only observed for homozygous mutant seeds collected from a parent plant th

269 on of triacylglycerol molecular species; (2) homozygous mutant seeds of phe1, mini3, and iku2, which

270 ccount for the enigmatic normal phenotype of homozygous mutant sheep.

271 ow a body size increase; however, fam57ba-/- homozygous mutants show a strongly increased head size a

272 Homozygous mutants show head tossing and circling behavi

273 The fully penetrant homozygous mutant showed termination of cardiac developm

274 the GR66 locus was genetically mutated, and homozygous mutant silkworm strains with truncated gustat

275 Homozygous mutant (Slc26a9(-/-)) mice appeared healthy a

276 causally related, sequestering FGF8 in Emx2 homozygous mutants substantially recovered WNT expressio

277 Although homozygous mutants survive into early adulthood, they ev

278 The majority of homozygous mutants survived only until E15.5 and display

279 ing Xenopus tropicalis heterozygous, but not homozygous mutant tadpoles.

280 entified postsynaptic NMJ defects in newborn homozygous mutants that were attributable to mutant FUS

281 e but more than both Het(betaalphagamma) and homozygous mutant transfections.

282 than wild type and much larger currents than homozygous mutant transfections.

283 intermediate between those of wild-type and homozygous mutant transfections.

284 ased risk of tobacco-related cancers [OR for homozygous mutant type (MT) compared with wild type (WT)

285 resent at significantly higher levels in the homozygous mutant versus WT mouse embryo fibroblasts.

286 In homozygous mutants, we observed reduced and less foliate

287 Surprisingly, homozygous mutants were born at the expected Mendelian r

288 Homozygous mutants were embryonic lethal and showed impa

289 Homozygous mutants were genetically underrepresented aft

290 Homozygous mutants were glucose tolerant and protected a

291 Kdelr1 homozygous mutants were mildly lymphopenic, as were mice

292 mitted via both male and female gametes, but homozygous mutants were never recovered.

293 y-seven neuronal signaling genes with viable homozygous mutants were selected for this study.

294 Approximately 2/5 of the homozygous mutants were viable and grew into reproductiv

295 Ror2 homozygous mutants, which infrequently yield duplex coll

296 rozygous for the cbr1-2 allele segregated 6% homozygous mutants, while cbr1-3 and cbr1-4 heterozygote

297 Transformation of the Brachypodium homozygous mutant with a genomic copy of the Arabidopsis

298 This yields homozygous mutants with two allelic mutations, but also

299 ish, 6% in p53 heterozygotes, and 29% in p53-homozygous mutant zebrafish (P = 0.013), indicating that

300 reported in morphant zebrafish, zap70(y442) homozygous mutant zebrafish displayed normal development