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 nting sperm discharge and the development of homozygous mutants.

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

5 ficient was significantly higher than in p53 homozygous mutants.

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

7 cessfully scored wild type, heterozygous and homozygous mutants.

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

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

10 ethylation patterns which are lost in Smchd1 homozygous mutants.

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

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

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

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

15 Homozygous mutants also experience leukoencephalopathy i

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

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

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

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

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

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

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

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

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

25 Homozygous mutant animals die on the first postnatal day

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

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

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

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

30 d with overgrowth phenotypes in the tails of homozygous mutant animals.

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

32 e have hippocampal layering defects, whereas homozygous mutants are embryonic lethal.

33 Homozygous mutants are viable and fertile with only mino

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

35 Tsg homozygous mutants are viable but of smaller size and di

36 a copies of Hoxd11 are present in the Hoxa11 homozygous mutant background.

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

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

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

40 cells carry a wild-type gene and others are homozygous mutant, can reveal where in the animal a gene

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

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

43 Labeled homozygous mutant cells can be generated in an otherwise

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

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

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

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

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

49 mitotic recombination to generate patches of homozygous mutant cells.

50 Consistent with this latter finding, homozygous mutant clones of moleskin fail to grow in the

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

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

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

54 Homozygous-mutant colonies were common in patients with

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

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

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

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

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

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

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

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

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

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

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

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

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

68 Homozygous mutants died shortly after birth with an obvi

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

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

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

72 Both homozygous mutants displayed decreased binding to collag

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

74 Homozygous mutant dronc animals die during pupal stages;

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

76 Homozygous mutant embryos derived from eggs lacking Pofu

77 However, homozygous mutant embryos develop normally and adults ar

78 Homozygous mutant embryos developed normally until embry

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

80 We found that EndoG homozygous mutant embryos die between embryonic days 2.5

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

82 The homozygous mutant embryos display an open anterior neura

83 Homozygous mutant embryos display vascular remodeling de

84 Homozygous mutant embryos do not survive to birth and di

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

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

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

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

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

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

91 At E9.5, homozygous mutant embryos showed homogeneously enlarged

92 In homozygous mutant embryos, mitoses are disorganized with

93 In homozygous mutant embryos, the yolk sac undergoes cell d

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

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

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

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

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

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

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

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

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

103 Pbx1 homozygous mutants exhibited delayed or absent formation

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

105 Unexpectedly, homozygous mutant female embryos were more severely affe

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

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

108 Homozygous mutant females are sterile and show defects i

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

110 RanBPM homozygous mutant females displayed a premature ovarian

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

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

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

114 Homozygous mutant fish from two of these lines were viab

115 was undetectable in plasma preparations from homozygous mutant fish.

116 Homozygous mutant flies are viable and appear morphologi

117 Whereas mice homozygous mutant for alpha1(alpha1-/-) have normal fert

118 show this dominant enhancement, but animals homozygous mutant for both ama and Abl show abnormal axo

119 Adult zebrafish homozygous mutant for disc1 show aberrant behavioural re

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

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

122 Cells homozygous mutant for mRpL12 have reduced mitochondrial

123 Animals homozygous mutant for p66 display defects during metamor

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

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

126 n cancer in UV-irradiated mice that are both homozygous mutant for the nucleotide excision repair (NE

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

128 Homozygous mutants from all three alleles were smaller a

129 consistent with embryonic lethality for the homozygous mutant genotype.

130 served for combined effects of exposures and homozygous mutant genotypes, particularly for CP.

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 Surprisingly, engineered homozygous mutants in zebrafish have no apparent phenoty

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

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

147 Whereas homozygous mutants individually affecting the four RAD23

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

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

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

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

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

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

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

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

156 Homozygous mutant maize plants exhibited a yellow leaf p

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

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

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

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

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

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

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

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

165 The double homozygous mutant mice (Lop10/Lop10 alpha 3(-/-)) showed

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

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

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

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

170 Hip1r homozygous mutant mice are viable and fertile without ob

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

172 Gas2 homozygous mutant mice are viable but have severely impa

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

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

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

176 Homozygous mutant mice carrying this mutation developed

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

178 Pkd1m1Bei homozygous mutant mice demonstrated delayed endochondral

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

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

181 Homozygous mutant mice developed dense nuclear cataracts

182 Homozygous mutant mice developed less liver fibrosis.

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

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

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

186 Homozygous mutant mice die perinatally showing a greatly

187 Homozygous mutant mice died at midgestation, before embr

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

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

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

191 Homozygous mutant mice displayed enlarged vessels compri

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

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

194 Homozygous mutant mice exhibit earlier seizure onset tha

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

196 Homozygous mutant mice exhibited early postnatal lethali

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

198 Homozygous mutant mice failed to produce enamel.

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

200 Homozygous mutant mice had an abnormal gait and difficul

201 Rather, homozygous mutant mice had glomerular hematuria, protein

202 Homozygous mutant mice had no detectable auditory brains

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

204 Homozygous mutant mice harbor a missense mutation M105I

205 Tgif1 homozygous mutant mice have significantly raised auditor

206 Homozygous mutant mice have undetectable beta-mannosidas

207 p53 homozygous mutant mice have unstable mutant p53 in norma

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

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

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

211 Homozygous mutant mice on C57BL/6 background were grossl

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

213 All heterozygous and homozygous mutant mice show macrothrombocytopenia with p

214 Chordin homozygous mutant mice show, at low penetrance, early le

215 Homozygous mutant mice showed an increased ratio of hear

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

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

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

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

220 Bsx homozygous mutant mice were born at the expected Mendeli

221 Homozygous mutant mice were completely viable despite ex

222 el comparable to that of wild-type CFTR: The homozygous mutant mice were fertile, had normal survival

223 Homozygous mutant mice were phenotypically normal but we

224 Homozygous mutant mice were viable and fertile.

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

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

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

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

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

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

231 studies were performed with heterozygous and homozygous mutant mice.

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

233 .1 +/- 0.4 mV hyperpolarization in DeltaF508 homozygous mutant mice.

234 body temperatures and increased lethality in homozygous mutant mice.

235 evelopment, evidenced by the analysis of jmj homozygous mutant mice.

236 eased levels of apoptosis within the tail of 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 Homozygous mutant NSD1 embryos, which initiate mesoderm

242 ted fragmented elastic fiber architecture in homozygous mutant null mice.

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

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

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

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

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

248 Both heterozygous and homozygous mutant offspring from Dmbx1 homozygous mutant

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

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

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

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

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

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

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

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

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

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

259 Using fibroblasts established from homozygous mutant (Prx-2-/-) and wild-type (Prx-2+/+) mu

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

261 Homozygous mutant rats showed normal CD8a and CD8b messe

262 Homozygous mutant (Rb(-/-)) embryos die at E13.5-E15.5,

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

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

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

266 Homozygous mutant seedlings and callus tissue produced f

267 Homozygous mutant seedlings of both alleles showed less

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 Homozygous mutant (Shp-2Delta46-110) embryonic stem (ES)

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

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

276 Reduction of Fgf10 expression in Hhip homozygous mutants suggests that at least some of the ob

277 Although homozygous mutants survive into early adulthood, they ev

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

279 sed in part by the failure of the progeny of homozygous mutants to initiate cytokinesis and associate

280 entation with Fgf8 restored proliferation in homozygous mutants to wild-type levels, suggesting that

281 Homozygous mutant (TR-betaGS/GS) mice displayed abnormal

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

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

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

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

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

287 In homozygous mutants, we observed reduced and less foliate

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

289 Homozygous mutants were embryonic lethal and showed impa

290 Homozygous mutants were genetically underrepresented aft

291 Homozygous mutants were glucose tolerant and protected a

292 Kdelr1 homozygous mutants were mildly lymphopenic, as were mice

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

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

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