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1 null alleles) and LCA (four missense and one null allele).
2 1g(js) or Pcdh15(av-3J) alleles, or an Ush1c null allele.
3 y to self-associate cannot complement an lfy null allele.
4 retention of beta1B, generating a functional null allele.
5 not be forced to segregate to a homokaryotic null allele.
6 cts indistinguishable from those caused by a null allele.
7 as well as the partial lethality of the p38b null allele.
8 nd rescued the male lethality of the Bpa(1H) null allele.
9 lethality in female embryos homozygous for a null allele.
10 trap represents a hypomorphic rather than a null allele.
11 nthesis in sorghum, and the bmr6 mutant is a null allele.
12 , we generated mice with a conditional Hdac3 null allele.
13 o, we generated mice with a conditional PKD1-null allele.
14 ous deletion in Ddr2 to produce an effective null allele.
15 cognition target (FRT)-dependent conditional null allele.
16 ail to rescue the loss of Cdk8 and behave as null alleles.
17 erosis, nor do his relatives who carry APOL1 null alleles.
18 ease observed for each of two distinct fog-3 null alleles.
19 nse mutations than in those heterozygous for null alleles.
20 LacZ reporter allele, resulted in functional null alleles.
21 atio was highest among heterozygotes for VWF null alleles.
22 cngc16-1 and 16-2 were both loss-of-function null alleles.
23 causality is commonly tested with homozygous null alleles.
24 ltures harboring either two wild-type or two null alleles.
25 ess demyelination/dysmyelination than in the null alleles.
26 he function of yar was defined by generating null alleles.
27 mited by genetic redundancy and/or a lack of null alleles.
28 velopment [7, 11]; and tissue-specific hlh-2 null alleles.
29 among loci, a pattern usually suggestive of null alleles.
30 ockout mice, suggesting that these represent null alleles.
31 TPA suppression, indicating they function as null alleles.
32 llagen V, and is most often caused by COL5A1 null alleles.
33 iate between MYMK wild type, hypomorphic and null alleles.
34 n tumors and are thought to give rise to p53-null alleles.
35 3 patients with no VWFpp were homozygous for null alleles.
36 s often results in the generation of mutant (null) alleles.
39 trast to our previous studies using the Hip1 null allele, an inhibition of tumorigenesis was not obse
40 X6 compound inheritance that combines a rare null allele and a common hypomorphic allele at the TBX6
42 le CRE recombinase strain, a conditional p53-null allele and a loxP-stop-loxP activatable oncogenic K
43 we engineered a novel conditional p16(INK4a)-null allele and combined this allele with a melanocyte-s
44 We utilized mice heterozygous for a Snap25 null allele and deficient in SNAP-25 expression to model
45 containing the EDA isoform or contain an EDA-null allele and express only FN lacking EDA, with or wit
46 variant (T596A) of Sting that functions as a null allele and fails to produce detectable protein.
51 Transgenic mice heterozygous for a Trp53-null allele and overexpressing EGFR in Schwann cells had
53 nd cancer cell-enriched protein) conditional-null allele and showed that neural-specific knockout of
55 on, we tested specific Trbl antisera, a trbl null allele and Trbl transgenes bearing site-directed mu
62 nsistent with synergism between recG and ruv null alleles and reinforced when the protein was shown t
63 in patients with RP (three missense and two null alleles) and LCA (four missense and one null allele
64 nterpreted as technical issues (for example, null alleles), and that it is important to take such fac
65 isely delete foraging, generating the for(0) null allele, and used recombineering to reintegrate a fu
67 ome case has yet been associated with COL5A2 null alleles, and phenotypes that might result from such
68 ly polymorphic, exhibited low frequencies of null alleles, and were easy to interpret with the aid of
70 allele of the autonomous pathway gene fy (fy null alleles are embryo lethal) displayed background-spe
71 clv1 alleles are dominant negative, and clv1 null alleles are weak in phenotype, suggesting additiona
72 ngly, the hypersensitivity phenotype of ARP5 null allele arp5-1 is stronger than the severe knockdown
73 the common R555W mis-sense allele and a DYSF-null allele, as well as control human myoblast cultures
74 1g/L, respectively, whereas N variant was a 'null' allele associated with the absence of alphas1-case
75 ted mice that have one mutant allele and one null allele at the Tgfb1 locus, reasoning that these mic
76 4.2-fold increased risk for MI; carriers of null alleles at LDLR were at even higher risk (13-fold d
78 we demonstrate that introduction of a Trp53-null allele attenuates the vertebral defects found in Pd
79 mutations, which act as the equivalent of a null allele because they result in the generation of sma
80 mline heterozygosity of mouse Sdhb/Sdhc/Sdhd null alleles blunts chronic hypoxia-induced increases in
81 on the I1 inner arm dynein (dynein f) and a null allele, bop5-2, defective in the gene encoding the
82 gon-2 loss-of-function mutants (including a null allele) can be suppressed by gain-of-function mutat
86 nse mutation FIG4(I41T) combined with a FIG4 null allele causes Charcot-Marie-Tooth 4J disease, a sev
88 mosaic eye imaginal discs, while ph(del), a null allele, causes only non-autonomous overgrowth, ph(5
89 with Ift172(avc1) and Ift172(wim), an Ift172 null allele: cilia were present on 42% of avc1 mouse emb
90 o-severe AD in European populations have FLG-null alleles compared with a general population frequenc
91 heterozygous for the patient mutation and a null allele (Copb2R254C/Zfn) show a severe perinatal phe
92 omparative leaf proteome analyses of a CLPR4 null allele demonstrate a central role of Clp protease i
93 ecp2 heterozygotes, which are mosaic for the null allele, demonstrated that electrical hyperexcitabil
95 vo setting, mice heterozygous for an MT1-MMP-null allele display a distinct survival advantage and re
96 Mice heterozygous for either Pcbp1 or Pcbp2 null alleles display a mild and nondisruptive defect in
101 stases were primarily negative for the fgfr1 null allele, exhibited high FGFR1 expression, and a neur
105 ing seed development the effect of the cac1a null allele first becomes apparent at 3-d after flowerin
106 mained untested in the mouse, we generated a null allele for Cv2 which was crossed to Tsg and Chd mut
109 ccharomyces cerevisiae led us to reconstruct null alleles for both genes and prove that yrdC is essen
112 generated animals containing combinations of null alleles for each receptor, especially animals expre
117 in double mutants combining bk4 with bk2 or null alleles for two CesA genes, confirmed interaction o
118 Twenty-eight mutations were novel, with null alleles frequently found in trans to missense mutat
120 nd the glutathione-S-transferase-mu1 (GSTM1) null allele have been shown separately to associate with
121 to other tasiR-ARF biogenesis mutants, dcl4 null alleles have an uncharacteristically mild phenotype
123 lusive since Crb1 mouse mutants, including a null allele, have failed to mimic the early-onset of LCA
124 e presence of technical issues (for example, null alleles), hierarchical structure (for example, host
129 vivo model, we used mice heterozygous for a null allele in Bmpr2 (Bmpr2(+/-)) and wild-type litterma
130 to the y locus and showed the same recessive null allele in homozygosis: Deltay A set of molecular an
136 is to develop a screening method to generate null alleles in a human cell line haploid for all chromo
137 but the early embryonic lethality of Dicer1 null alleles in mice has limited our ability to address
141 inducible Cre transgene and Sox9 conditional null alleles in the mouse, we show that Sox9 is required
143 c differences between drosha and pasha/dgcr8 null alleles in two postembryonic lineages in the Drosop
148 such as false alleles and allelic dropouts (null alleles) in situations such as SNPs from low-covera
150 oss-of-function alleles, including a natural null allele, in three other accessions, all of which had
152 Surprisingly, our characterization of a seh1 null allele indicates that, although required in the fem
153 GN results in the same phenotypes as the pgn null allele, indicating that a tight regulation of the P
154 rgeting this pathway, we introduced the Fn14 null allele into the MRL-lpr/lpr lupus mouse strain.
157 ss-of-function from enhanced inactivation or null alleles is rare and has been associated with myasth
160 Importantly, mice heterozygous for the K9-null allele (Krt9(+/-)) show neither an overt nor histol
161 P2 knockout mice and human patients with RP2 null alleles leads to XLRP resembling recessive rod-cone
162 ventional gene targeting of Jak2, creating a null allele, leads to a block in definitive erythropoies
165 ontrast to waltzer mice, which carry a CDH23 null allele mimicking USH1D, hair cell development is un
166 n this study, we generated an inducible Drd2 null-allele mouse strain that circumvented developmental
169 r, differences between the phenotypes of the null allele mutants suggest that they play different rol
170 geneity and gene dosage effects in the mouse null alleles muted (Bloc1s5(mu/mu)) and dysbindin (Bloc1
171 ice homozygous for the Prkdc(scid) and Il2rg(null) alleles (NSG mice) permit engraftment of a wide-ra
172 the WAK2 dominant allele is suppressed by a null allele of a pectin methyl esterase (PME3) whose act
175 arrying the Bmp7(R-G) allele together with a null allele of Bmp2 or Bmp4 die during embryogenesis wit
176 hronotoxicity of APAP, we used a conditional null allele of brain and muscle Arnt-like 1 (Bmal1, aka
178 0 (Cep290(rd16/+)) but not of a heterozygous null allele of Cep290 (Cep290(null/+)) or of other cilio
182 To understand this further, we introduced a null allele of Fancc (Fancc-), encoding a member of the
184 a systematic reverse genetic screen using a null allele of HMT1 and the synthetic genetic array (SGA
186 Complementation testing with an engineered null allele of Il2ra, however, showed that jal is a muta
187 ve mouse mutants, we identified a functional null allele of inositol polyphosphate-5-phosphatase E (I
189 ic and respiratory phenotypes of mice with a null allele of Mecp2 to mice with Mecp2 removed from the
190 ve identified sister of open brain (sopb), a null allele of mouse Intraflagellar transport protein 12
193 ut class genes, small RNA populations from a null allele of mut-16 as well as a regulatory mut-16(mg4
195 ution of Ntn1 to development, we generated a null allele of Ntn1 and re-examined tissues exhibiting p
198 Embryos that are homozygous for Splotch, a null allele of Pax3, have a severe neural crest cell (NC
200 present the identification of an unreported null allele of Pun1 from a non-pungent accession of Caps
204 rthermore, germ-line clones homozygous for a null allele of shaggy (Drosophila GSK-3beta) both fail t
206 V) collagen chains by generating mice with a null allele of the alpha3(V) gene Col5a3 (Col5a3-/- mice
208 orn1)) mice are homozygous for a spontaneous null allele of the destrin (Dstn) gene, which is also kn
209 nur7/nur7) mice that were heterozygous for a null allele of the gene that encodes the enzyme UDP-gala
210 f type 2 diabetes in mice heterozygous for a null allele of the insulin receptor and an N-ethyl-N-nit
215 ccurs in the context of heterozygosity for a null allele of the tumor suppressor gene Pten, there is
216 oelectrics of neonatal mice homozygous for a null allele of Tmem16a (Tmem16a(-/-)) to investigate the
217 to develop by birth in mice homozygous for a null allele of Tmem16a (Tmem16a(tm1Bdh)(/tm1Bdh)) and di
218 We report that all mice homozygous for a null allele of Tmem16a died within one month of birth an
219 ked Klein-Zschocher (KLZ) mutation created a null allele of Yipf6, a member of a gene family believed
225 of emerin and LEM2 in somatic cells, we used null alleles of both genes to generate C. elegans animal
227 between male C57BL/6J mice heterozygous for null alleles of Cacna1c and Tcf7l2 and wild-type females
228 itional mutant crd1Deltapsd1Delta containing null alleles of CRD1 (CL synthase) and PSD1 (mitochondri
235 unctional interaction between RIP1 and FADD, null alleles of RIP1 were crossed into Fadd(-/-) mice.
237 rity between hypomorphic alleles of AGO1 and null alleles of SQN and by the genetic interaction betwe
243 titatively assessed their ability to produce null alleles of their target gene by antibody staining a
245 generated using conditional hypomorphic and null alleles of Tsc2 combined with the neuron-specific s
248 e in JAZ1, JAZ3, JAZ4, JAZ9, and JAZ10, phyB null alleles only weakly alleviated the growth and repro
249 d that introduction of the gamma-sarcoglycan-null allele onto the DBA/2J background confers a more se
250 sion is eliminated or diminished in an hlh-8 null allele or in hlh-2 (CeE/DA) RNAi, respectively.
251 is in mice homozygous for either the Tyrc-2J null allele or the Tyrc-h allele, which model OCA-1A and
252 Previous animal models carrying either a null allele or transgenic manipulation of Ngf or Trka ha
253 al explants from embryos with different Sfrp-null alleles or explants overexpressing ADAM10 extend ax
254 in cells with missense alleles, but not with null alleles, or by over-expressing calnexin, a calcium-
256 plementation testing between jal and a Gata3 null allele produced doubly heterozygous, phenotypically
258 related to amplification anomalies, such as null alleles, relative to loci with more limited use.
259 cells, and cells expressing a Foxp3 reporter null allele revealed that the majority of Foxp3-dependen
261 n addition, phenotypic analysis of a mett-10 null allele reveals that METT-10 enables mitotic cell cy
263 b(+/W)) with mice heterozygous for the Scn1b-null allele (Scn1b(+/-)) to determine whether the C121W
265 le heterozygotes carrying both Pten and Tsc2-null alleles showed no increase relative to Pten(+/-) he
266 mutations, but 12Gso is clearly not a global null allele since homozygotes survive into adulthood.
267 bstitution and the presence of low-frequency null alleles suggest a postduplication relaxation of pur
268 th these phenotypes, mice carrying the fgfr1 null allele survived significantly longer than those wit
269 plementation of the phenotype of the diploid null allele, tam-2 2C by a genomic fragment containing t
275 p.W253X) in the first exon is likely to be a null allele; the second, a missense mutation (p.I201F) w
277 nd cooperates with heterozygosity for a Pten null allele to promote hyperactive PI3K/AKT signaling.
281 f the protein fragment produced by the MARF1 null allele was incorrectly labelled as '34aa' rather th
283 Similar circumstances existed when the CMAH null allele was polymorphic in ancestral hominins, just
284 tase-dead PTEN mutant (C124S) and maintain 1 null allele, we show that PTEN phosphatase activity is r
287 the cholesterol-binding domain of APP or APP null alleles, we found that while CE also regulate Abeta
288 omozygous or heterozygous for the Tau (Mapt) null allele were found to exhibit increasing levels of a
294 To test this hypothesis, we bred an Xpa null allele, which eliminates NER, into the TNR mouse mo
297 ve adhesion phenotype in embryos bearing the null allele with those carrying the 'traditional' knocko