| Type |
Details |
Score |
| HT Experiment |
| Series Id: |
GSE39203 |
| Experiment Type: |
RNA-Seq |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Raudsepp T |
| Year: |
2012 |
| Journal: |
PLoS Genet |
| Title: |
Genome-wide association study implicates testis-sperm specific FKBP6 as a susceptibility locus for impaired acrosome reaction in stallions. |
| Volume: |
8 |
| Issue: |
12 |
| Pages: |
e1003139 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5471969 |
| Assay Type: |
Immunohistochemistry |
| Annotation Date: |
2013-04-04 |
| Strength: |
Present |
| Sex: |
Male |
| Emaps: |
EMAPS:1797526 |
| Pattern: |
Regionally restricted |
| Stage: |
TS26 |
| Assay Id: |
MGI:5471982 |
| Age: |
embryonic day 18.5 |
|
| Note: |
Authors report a reduced nuclear accumulation in Fkbp6 mutant male germ cells. |
| Specimen Label: |
2J Fkbp6-/- Miwi2 |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| Allele |
| Name: |
FK506 binding protein 6; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
| Allele Type: |
Endonuclease-mediated |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
581
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Allele |
| Name: |
deletion, Chr 5, Uta Francke 2 |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Munn K |
| Year: |
2000 |
| Journal: |
Genetics |
| Title: |
The shut-down gene of Drosophila melanogaster encodes a novel FK506-binding protein essential for the formation of germline cysts during oogenesis. |
| Volume: |
156 |
| Issue: |
1 |
| Pages: |
245-56 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Preall JB |
| Year: |
2012 |
| Journal: |
RNA |
| Title: |
shutdown is a component of the Drosophila piRNA biogenesis machinery. |
| Volume: |
18 |
| Issue: |
8 |
| Pages: |
1446-57 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
This entry includes FKBP6 from mammals and protein shutdown (shu) from flies. FKBP6 is a testis-sperm specific protein that belongs to the immunophilins FKBP family known to be involved in meiosis, calcium homeostasis, clathrin-coated vesicles, and membrane fusions []. FKBP6 contains a PPIase FKBP-type domain and a TPR domain. However, it is inactive as an isomerase and associates with Hsp90 via its TPR domain []. Protein shutdown is essential for the formation of germline cysts during oogenesis []and is a component of the Drosophila piRNA biogenesis machinery []. |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
targeted mutation, deletion, mutant stock |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Del(5Limk1-Trim50)2Uta/+ |
| Background: |
involves: 129S7/SvEvBrd * C57BL/6J |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Del(5Gtf2i-Limk1)1Uta/? Del(5Limk1-Trim50)2Uta/? |
| Background: |
involves: 129S7/SvEvBrd * C57BL/6J |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Goergen CJ |
| Year: |
2011 |
| Journal: |
J Vasc Res |
| Title: |
Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities. |
| Volume: |
48 |
| Issue: |
2 |
| Pages: |
119-29 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Campuzano V |
| Year: |
2012 |
| Journal: |
PLoS Genet |
| Title: |
Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. |
| Volume: |
8 |
| Issue: |
2 |
| Pages: |
e1002458 |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE54515 |
| Experiment Type: |
RNA-Seq |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ichiyanagi T |
| Year: |
2014 |
| Journal: |
Nucleic Acids Res |
| Title: |
HSP90α plays an important role in piRNA biogenesis and retrotransposon repression in mouse. |
| Volume: |
42 |
| Issue: |
19 |
| Pages: |
11903-11 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Li HH |
| Year: |
2009 |
| Journal: |
EMBO Mol Med |
| Title: |
Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. |
| Volume: |
1 |
| Issue: |
1 |
| Pages: |
50-65 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Davenport CM |
| Year: |
2022 |
| Journal: |
Cell |
| Title: |
Innate frequency-discrimination hyperacuity in Williams-Beuren syndrome mice. |
| Volume: |
185 |
| Issue: |
21 |
| Pages: |
3877-3895.e21 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Carninci P |
| Year: |
2005 |
| Journal: |
Science |
| Title: |
The transcriptional landscape of the mammalian genome. |
| Volume: |
309 |
| Issue: |
5740 |
| Pages: |
1559-63 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gerhard DS |
| Year: |
2004 |
| Journal: |
Genome Res |
| Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| Volume: |
14 |
| Issue: |
10B |
| Pages: |
2121-7 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Huttlin EL |
| Year: |
2010 |
| Journal: |
Cell |
| Title: |
A tissue-specific atlas of mouse protein phosphorylation and expression. |
| Volume: |
143 |
| Issue: |
7 |
| Pages: |
1174-89 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Church DM |
| Year: |
2009 |
| Journal: |
PLoS Biol |
| Title: |
Lineage-specific biology revealed by a finished genome assembly of the mouse. |
| Volume: |
7 |
| Issue: |
5 |
| Pages: |
e1000112 |
|
•
•
•
•
•
|