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User:Bruewera

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SUPER BOWL (Round 5)

My Annotations

StatusPageDate/TimeGO Term (Aspect)ReferenceEvidenceNotesLinks
updatedbyinstructorMOUSE:CCD662012-04-10 21:02:51 CDTGO:0050908 detection of light stimulus involved in visual perception (P)PMID:21680557ECO:0000315 mutant phenotype evidence used in manual assertion

Figure 3: Ccdc66 -/- mouse at 3 months revealed a reduced a-wave amplitude under scotopic conditions and a reduced b-wave amplitude under photopic conditions on a background intensity of 25 cd/m^2.

challenge
acceptableCANLF:F1PKQ62012-04-10 21:44:42 CDTGO:0050908 detection of light stimulus involved in visual perception (P)PMID:21521437ECO:0000315 mutant phenotype evidence used in manual assertion

Table 2 and Figure 3 show that the amplitudes of the 30Hz flicker response were significantly reduced in the dogs homozygous for the RPGRIP1 mutation compared to the control group.

challenge
requireschangesCHICK:O574802012-04-12 11:50:31 CDTGO:0004383 guanylate cyclase activity (F)PMID:9448321ECO:0000314 direct assay evidence used in manual assertion

Figure 2 shows the analysis of GC1 protein level expression in normal and rd/rd (retinal dystrophy affected)chicken retina using western blot probed with anti-retGC pAb GC2.

challenge
acceptableBOVIN:RPE652012-04-12 12:08:55 CDTGO:0004744 retinal isomerase activity (F)PMID:16096063ECO:0000314 direct assay evidence used in manual assertion

Figure 4,5. Fig. 4 shows the absence of isomerase activity activity in pRPE65-transerase 293T-RC cell homogenates using atROL as substrate and the presence of activity in the same cells using atRP as substrate. pRPE65-transfected likes do show isomerase activity.

challenge
updatedbyinstructorMOUSE:GUC2F2012-04-12 12:26:12 CDTGO:0050908 detection of light stimulus involved in visual perception (P)PMID:17255100ECO:0000315 mutant phenotype evidence used in manual assertion

Figure 2B: At high intensity light stimulus, the a-wave and sensitivity of the scotopic GC2 (GUCY2F) -/- mouse were slightly reduced compared to the WT.

challenge
acceptableHUMAN:EYS2012-04-12 12:55:56 CDTGO:0050908 detection of light stimulus involved in visual perception (P)PMID:18976725ECO:0000315 mutant phenotype evidence used in manual assertion

Figure 4 shows the constriction of the visual field in individuals affected with a homozygous p.Tyr3156X mutation in EYS and a non-recordable ERG or ERG responses in a rod-cone pattern. One patient (4C) also demonstrated a photoreceptor dystrophy.

challenge

acceptable:3
unacceptable:0
requires_changes:1
flagged:0

Annotations challenged by Bruewera

StatusAuthor,GroupPageGO Term (Aspect)ReferenceEvidenceLinksPage history
requireschangesBelllesl,
Team Lappish Hag's Love Potion
HUMAN:Q8N519GO:0010467 - gene expression (P)PMID:21980471ECO:0000314 direct assay evidence used in manual assertionchallengeC: 1
requireschangesNapiera8,
Team Lappish Hag's Love Potion
PSEOL:ALKKGO:0031956 - medium-chain fatty acid-CoA ligase activity (F)PMID:1453953ECO:0000315 mutant phenotype evidence used in manual assertionchallengeC: 1
requireschangesCo227488,
Team Har Gobind Khorana
CANAL:Q5ALT5GO:0031505 - fungal-type cell wall organization (Congo red (compound that interacts with chitin/interferes with cell wall construction) and caspofungin (inhibitor of the β-(1,3)-glucan synthase) were used on msb2 wildtype and mutant phenotypes to determine sensibility based on msb2 presence. ​Fig.1A,1A, MSB2 deletion resulted in Congo red sensitivity (250 μg/ml) as opposed to wildtype)PMID:19542310EXP: Inferred from Experiment challengeC: 1

0 annotations fixed by Bruewera


MSU Internal

My Annotations

StatusPageDate/TimeGO Term (Aspect)ReferenceEvidenceNotesLinks
requireschangesCANFA:PDE6A2012-03-29 11:34:07 CDTGO:0050908 detection of light stimulus involved in visual perception (P)PMID:18775863ECO:0000315 mutant phenotype evidence used in manual assertion

Figure 4: Average dark adapted a- and b- ERG wave amplitudes from mutant PDE6A puppies peaked at three weeks of age and were significantly smaller than control puppies of the same age. Mean light adapted a-wave amplitudes of affected dogs were lower than normal dogs at 3 weeks of age and decreased with increasing age.

challenge
requireschangesCANFA:E7AIM52012-04-01 08:11:05 CDTGO:0050908 detection of light stimulus involved in visual perception (P)PMID:20806078ECO:0000315 mutant phenotype evidence used in manual assertion

Figure 3: Establishes ADAM9 mutation in dogs affected with crd3 in this study. Figure 4: ADAM9 mutation is crd3 affected dogs causes a frame shift mutation resulting in a premature stop codon at base 6 of exon 17. Figure 1:By 15 months of age ERG dysfunction is detected as reduced 30Hz flicker cone responses in dogs affected with crd3 due to ADAM9 mutation, and at later ages by continued deterioration of cone and rod responses in these affected dogs.

challenge

acceptable:0
unacceptable:0
requires_changes:2
flagged:0

Annotations challenged by Bruewera

StatusAuthor,GroupPageGO Term (Aspect)ReferenceEvidenceLinksPage history
requireschangesBelllesl,
Team Lappish Hag's Love Potion
HUMAN:Q8N519GO:0010467 - gene expression (P)PMID:21980471ECO:0000314 direct assay evidence used in manual assertionchallengeC: 1
requireschangesNapiera8,
Team Lappish Hag's Love Potion
PSEOL:ALKKGO:0031956 - medium-chain fatty acid-CoA ligase activity (F)PMID:1453953ECO:0000315 mutant phenotype evidence used in manual assertionchallengeC: 1

0 annotations fixed by Bruewera