Type |
Details |
Score |
Strain |
Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16T10-Hira)4Bld/+ |
Background: |
B6.Cg-Tyr Del(16T10-Hira)4Bld |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16T10-Hira)4Bld/+ |
Background: |
involves: 129S7/SvEvBrd |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16Cldn5-Hira)5Bld/Del(16Cldn5-Hira)5Bld |
Background: |
involves: 129S7/SvEvBrd * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16Cldn5-Hira)5Bld/+ |
Background: |
B6.Cg-Tyr Del(16Cldn5-Hira)5Bld |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16Cldn5-Hira)5Bld/+ |
Background: |
involves: 129S7/SvEvBrd * C57BL/6 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16Dgcr2-Hira)3Aam/+ |
Background: |
involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16Dgcr2-Hira)3Aam/+ |
Background: |
involves: 129S7/SvEvBrd * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16Dgcr2-Hira)3Aam/+ |
Background: |
involves: 129S7/SvEvBrd |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16Dgcr2-Hira)3Aam/+ |
Background: |
involves: 129S7/SvEvBrd * C57BL/6 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Del(16Dgcr2-Hira)3Aam/+ |
Background: |
B6.129S7-Del(16Dgcr2-Hira)3Aam |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
322
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Tang Y |
Year: |
2012 |
Journal: |
Biochemistry |
Title: |
Identification of an ubinuclein 1 region required for stability and function of the human HIRA/UBN1/CABIN1/ASF1a histone H3.3 chaperone complex. |
Volume: |
51 |
Issue: |
12 |
Pages: |
2366-77 |
|
•
•
•
•
•
|
Publication |
First Author: |
Schilke B |
Year: |
1999 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Evidence for a conserved system for iron metabolism in the mitochondria of Saccharomyces cerevisiae. |
Volume: |
96 |
Issue: |
18 |
Pages: |
10206-11 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry represents ubinuclein-2 (UBN2). It contains a conserved HIRA-binding domain, which directly interacts with the N-terminal WD repeats of HIRA []. UBN2 and UBN1 are believed to be the orthologs of Hpc2p, a subunit of the HIR complex (a nucleosome assembly complex involved in regulation of histone gene transcription) in budding yeast []. It is phosphorylated upon DNA damage, probably by ATM or ATR []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Ubinuclein-1 (UBN1) is part of the histone chaperone complex HIRA/UBN1/CABIN1/ASF1a that preferentially deposits the histone variant H3.3 into chromatin and is implicated in diverse chromatin regulatory events from gene activation to heterochromatinisation [, ].Ubinuclein-1 interacts with HIRA and is involved in the formation of senescence-associated heterochromatin foci (SAHF). SAHF are domains of specialised chromatin found in senescent cells that repress expression of proliferation-promoting genes []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry includes NFU1-like proteins from eukaryotes and some uncharacterised proteins from prokaryotes.Nfu functions as a scaffold protein for assembly and delivery of rudimentary Fe-S clusters to target proteins [, ]. A human Nfu homologue, HIRA-interacting protein 5 (HIRIP5), was first identified in a two-hybrid screen for proteins that interact with the transcription regulator HIRA []. It seems that two human Nfu isoforms are generated by alternative explicing, which are subsequently targeted to different subcellular compartments []. |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Mukai J |
Year: |
2015 |
Journal: |
Neuron |
Title: |
Molecular substrates of altered axonal growth and brain connectivity in a mouse model of schizophrenia. |
Volume: |
86 |
Issue: |
3 |
Pages: |
680-95 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mukai J |
Year: |
2008 |
Journal: |
Nat Neurosci |
Title: |
Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion. |
Volume: |
11 |
Issue: |
11 |
Pages: |
1302-10 |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE73381 |
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE66931 |
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
601
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
231
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Banumathy G |
Year: |
2009 |
Journal: |
Mol Cell Biol |
Title: |
Human UBN1 is an ortholog of yeast Hpc2p and has an essential role in the HIRA/ASF1a chromatin-remodeling pathway in senescent cells. |
Volume: |
29 |
Issue: |
3 |
Pages: |
758-70 |
|
•
•
•
•
•
|
Publication |
First Author: |
Diamantopoulou A |
Year: |
2017 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion. |
Volume: |
114 |
Issue: |
30 |
Pages: |
E6127-E6136 |
|
•
•
•
•
•
|
Publication |
First Author: |
Agar JN |
Year: |
2000 |
Journal: |
J Biol Inorg Chem |
Title: |
Modular organization and identification of a mononuclear iron-binding site within the NifU protein. |
Volume: |
5 |
Issue: |
2 |
Pages: |
167-77 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zanivan S |
Year: |
2008 |
Journal: |
J Proteome Res |
Title: |
Solid tumor proteome and phosphoproteome analysis by high resolution mass spectrometry. |
Volume: |
7 |
Issue: |
12 |
Pages: |
5314-26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rai TS |
Year: |
2011 |
Journal: |
Mol Cell Biol |
Title: |
Human CABIN1 is a functional member of the human HIRA/UBN1/ASF1a histone H3.3 chaperone complex. |
Volume: |
31 |
Issue: |
19 |
Pages: |
4107-18 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sutton A |
Year: |
2001 |
Journal: |
Genetics |
Title: |
Yeast ASF1 protein is required for cell cycle regulation of histone gene transcription. |
Volume: |
158 |
Issue: |
2 |
Pages: |
587-96 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sherwood PW |
Year: |
1993 |
Journal: |
Mol Cell Biol |
Title: |
Characterization of HIR1 and HIR2, two genes required for regulation of histone gene transcription in Saccharomyces cerevisiae. |
Volume: |
13 |
Issue: |
1 |
Pages: |
28-38 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry includes HIR1/HIR2 from yeasts and HIRA from animals. They are WD-repeat containing proteins required for regulation of histone gene transcription. The budding yeast HIR complex is composed of Hir1, Hir2, Hir3 and Hpc2, and interacts with ASF1 [, ]. The HIR complex cooperates with ASF1 to promote replication-independent chromatin assembly. The HIR complex is also required for the periodic repression of three of the four histone gene loci during cell cycle as well as for autogenous regulation of the HTA1-HTB1 locus by H2A and H2B. DNA-binding by the HIR complex may repress transcription by inhibiting nucleosome remodeling by the SWI/SNF complex. The HIR complex may also be required for transcriptional silencing of centromeric, telomeric and mating-type loci in the absence of CAF-1 []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Llevadot R |
Year: |
1998 |
Journal: |
Gene |
Title: |
Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes. |
Volume: |
208 |
Issue: |
2 |
Pages: |
279-83 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gou LT |
Year: |
2020 |
Journal: |
Cell |
Title: |
Initiation of Parental Genome Reprogramming in Fertilized Oocyte by Splicing Kinase SRPK1-Catalyzed Protamine Phosphorylation. |
Volume: |
180 |
Issue: |
6 |
Pages: |
1212-1227.e14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Maze I |
Year: |
2015 |
Journal: |
Neuron |
Title: |
Critical Role of Histone Turnover in Neuronal Transcription and Plasticity. |
Volume: |
87 |
Issue: |
1 |
Pages: |
77-94 |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE69807 |
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Publication |
First Author: |
Vitelli F |
Year: |
2002 |
Journal: |
Cold Spring Harb Symp Quant Biol |
Title: |
Genetic dissection of the DiGeorge syndrome phenotype. |
Volume: |
67 |
|
Pages: |
327-32 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, mutant strain, deletion, congenic, chromosome aberration |
|
•
•
•
•
•
|
Publication |
First Author: |
Xu B |
Year: |
2013 |
Journal: |
Cell |
Title: |
Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion. |
Volume: |
152 |
Issue: |
1-2 |
Pages: |
262-75 |
|
•
•
•
•
•
|
Publication |
First Author: |
Funke B |
Year: |
1998 |
Journal: |
Genomics |
Title: |
Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11. |
Volume: |
53 |
Issue: |
2 |
Pages: |
146-54 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1314
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1135
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1043
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Prochasson P |
Year: |
2005 |
Journal: |
Genes Dev |
Title: |
The HIR corepressor complex binds to nucleosomes generating a distinct protein/DNA complex resistant to remodeling by SWI/SNF. |
Volume: |
19 |
Issue: |
21 |
Pages: |
2534-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rabadan MA |
Year: |
2022 |
Journal: |
Nat Commun |
Title: |
An in vitro model of neuronal ensembles. |
Volume: |
13 |
Issue: |
1 |
Pages: |
3340 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hamm JP |
Year: |
2017 |
Journal: |
Neuron |
Title: |
Altered Cortical Ensembles in Mouse Models of Schizophrenia. |
Volume: |
94 |
Issue: |
1 |
Pages: |
153-167.e8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chun S |
Year: |
2014 |
Journal: |
Science |
Title: |
Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models. |
Volume: |
344 |
Issue: |
6188 |
Pages: |
1178-82 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nilsson SR |
Year: |
2016 |
Journal: |
Cereb Cortex |
Title: |
Assessing the Cognitive Translational Potential of a Mouse Model of the 22q11.2 Microdeletion Syndrome. |
Volume: |
26 |
Issue: |
10 |
Pages: |
3991-4003 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
chromosome aberration, congenic, deletion, mutant strain, spontaneous mutation, targeted mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
Murano T |
Year: |
2019 |
Journal: |
Commun Biol |
Title: |
Transcriptomic immaturity inducible by neural hyperexcitation is shared by multiple neuropsychiatric disorders. |
Volume: |
2 |
|
Pages: |
32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zaremba JD |
Year: |
2017 |
Journal: |
Nat Neurosci |
Title: |
Impaired hippocampal place cell dynamics in a mouse model of the 22q11.2 deletion. |
Volume: |
20 |
Issue: |
11 |
Pages: |
1612-1623 |
|
•
•
•
•
•
|
Publication |
First Author: |
Brockway DF |
Year: |
2023 |
Journal: |
Cell Rep |
Title: |
Somatostatin peptide signaling dampens cortical circuits and promotes exploratory behavior. |
Volume: |
42 |
Issue: |
8 |
Pages: |
112976 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lindsay EA |
Year: |
2001 |
Journal: |
Nature |
Title: |
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. |
Volume: |
410 |
Issue: |
6824 |
Pages: |
97-101 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nomura J |
Year: |
2012 |
Journal: |
Neural Plast |
Title: |
Animal models of psychiatric disorders that reflect human copy number variation. |
Volume: |
2012 |
|
Pages: |
589524 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tong WH |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Subcellular compartmentalization of human Nfu, an iron-sulfur cluster scaffold protein, and its ability to assemble a [4Fe-4S] cluster. |
Volume: |
100 |
Issue: |
17 |
Pages: |
9762-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Eom TY |
Year: |
2024 |
Journal: |
Nat Commun |
Title: |
Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome. |
Volume: |
15 |
Issue: |
1 |
Pages: |
10510 |
|
•
•
•
•
•
|
Publication |
First Author: |
Raspa M |
Year: |
2017 |
Journal: |
Theriogenology |
Title: |
Dry ice is a reliable substrate for the distribution of frozen mouse spermatozoa: A multi-centric study. |
Volume: |
96 |
|
Pages: |
49-57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kvajo M |
Year: |
2012 |
Journal: |
Neuroscience |
Title: |
Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. |
Volume: |
211 |
|
Pages: |
136-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
University of California, Davis |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the University of California, Davis |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Dickinson ME |
Year: |
2016 |
Journal: |
Nature |
Title: |
High-throughput discovery of novel developmental phenotypes. |
Volume: |
537 |
Issue: |
7621 |
Pages: |
508-514 |
|
•
•
•
•
•
|
Publication |
First Author: |
International Knockout Mouse Consortium |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Function or Process or Component Unknown following Literature Review |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen GM |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
18 |
Issue: |
10 |
Pages: |
1670-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
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: |
The Gene Expression Nervous System Atlas (GENSAT) Project, The Rockefeller University (New York, NY) |
Year: |
2005 |
Journal: |
Database Download |
Title: |
MGI download of GENSAT transgene data |
|
|
|
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|