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Search results 301 to 395 out of 395 for Herc2

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Type Details Score
Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/Rl * C3H/Rl
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/Rl * C3H/Rl
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/Rl * C3H/Rl
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: Not Specified
Zygosity: hm
Has Mutant Allele: true
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Allele
Del(7Herc2-Mkrn3)13FRdni | MGI:3769770
 
Name: deletion, Chr 7, R D Nicholls13F; deletion, Chr 7, R D Nicholls 13F
Allele Type: Transgenic
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Genotype
Genotype
Symbol: Tg(Igh-Lmp2a)13FRdni/?
Background: involves: C57BL/6 * CD-1 * SJL
Zygosity: ot
Has Mutant Allele: true
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Protein Domain
IPR037976 | HERC2_APC10
Type: Domain
Description: This entry represents the APC10/DOC1 domain of HERC2 (HECT domain and RLD2). This domain is similar to the anaphase-promoting complex subunit APC10 and the DOC1 domain present in E3 ubiquitin ligases which mediate substrate ubiquitination (or ubiquitylation) []. HERC2 may be involved in protein trafficking and degradation pathways. Mutations in HERC2 lead to neuromuscular secretory vesicle and sperm acrosome defects, other developmental abnormalities, and juvenile lethality of jdf2 mice []. It has been shown that the HERC2-RNF8 protein complex coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes [].
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Allele
Oca2<p-18CoS> | MGI:3612248
 
Name: oculocutaneous albinism II; pink-eyed dilution 18CoS
Allele Type: Radiation induced
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/Rl * C3H/Rl
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/Rl * C3H/Rl
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/Rl * C3H/Rl
Zygosity: hm
Has Mutant Allele: true
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Publication
16280085 | J:103338
 
First Author: Stefan M
Year: 2005
Journal: BMC Genomics
Title: Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes.
Volume: 6
Pages: 157
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Genotype
Genotype
Symbol: Del(7Herc2-Mkrn3)13FRdni/+
Background: involves: C57BL/6 * CD-1 * SJL
Zygosity: ht
Has Mutant Allele: true
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Allele
Oca2<p-bs> | MGI:1856115
 
Name: oculocutaneous albinism II; pink-eyed dilution black eyed sterile
Allele Type: Radiation induced
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Publication
8146195 | J:18805
First Author: Culiat CT
Year: 1994
Journal: Proc Natl Acad Sci U S A
Title: Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice.
Volume: 91
Issue: 7
Pages: 2815-8
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Publication
9330366 | J:43552
First Author: Fritschy JM
Year: 1997
Journal: Neuroscience
Title: GABAA-receptor alpha-subunit is an essential prerequisite for receptor formation in vivo.
Volume: 81
Issue: 4
Pages: 1043-53
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Strain
MGI:6770816 | C57BL/6J-Herc2<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/Rl * C3H/Rl
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Herc2/Herc2<+> Oca2/Oca2<+>
Background: Not Specified
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/Rl * C3H/Rl
Zygosity: ht
Has Mutant Allele: true
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Publication
10430930 | J:56614
First Author: Gabriel JM
Year: 1999
Journal: Proc Natl Acad Sci U S A
Title: A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes.
Volume: 96
Issue: 16
Pages: 9258-63
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Publication
15820315 | J:128867
First Author: Stefan M
Year: 2005
Journal: Genomics
Title: A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.
Volume: 85
Issue: 5
Pages: 630-40
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Publication
12443978 | J:134043
First Author: Ge Y
Year: 2002
Journal: Brain Res
Title: Anorexigenic melanocortin signaling in the hypothalamus is augmented in association with failure-to-thrive in a transgenic mouse model for Prader-Willi syndrome.
Volume: 957
Issue: 1
Pages: 42-5
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Publication
16002520 | J:129818
First Author: Stefan M
Year: 2005
Journal: Endocrinology
Title: Hormonal and metabolic defects in a prader-willi syndrome mouse model with neonatal failure to thrive.
Volume: 146
Issue: 10
Pages: 4377-85
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Publication
21343540 | J:172308
First Author: Stefan M
Year: 2011
Journal: Am J Physiol Endocrinol Metab
Title: Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome.
Volume: 300
Issue: 5
Pages: E909-22
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Publication
17298945 | -
First Author: Kaustov L
Year: 2007
Journal: J Biol Chem
Title: The conserved CPH domains of Cul7 and PARC are protein-protein interaction modules that bind the tetramerization domain of p53.
Volume: 282
Issue: 15
Pages: 11300-7
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Protein Domain
IPR021097 | CPH_domain
Type: Domain
Description: The CPH domain is found in the Cullin-7, PARC and HERC2 proteins, which are all components of known or predicted E3-ubiquitin ligases. The CPH domain is a protein-protein interaction module that binds the teramerisation domain of the tumour suppressor protein p53 []. Structurally it forms a β-barrel fold similar to the SH3, Tudor and KOW and domains. Unlike the SH3 and Tudor domains, which bind to small peptides, the CPH domain appears to bind to an extended surface on p53.
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Publication
11524682 | -
First Author: Wendt KS
Year: 2001
Journal: Nat Struct Biol
Title: Crystal structure of the APC10/DOC1 subunit of the human anaphase-promoting complex.
Volume: 8
Issue: 9
Pages: 784-8
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Publication
12856284 | J:83137
First Author: Wu M
Year: 2003
Journal: Mamm Genome
Title: Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14.
Volume: 14
Issue: 5
Pages: 323-34
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Strain
MGI:3579573 | C3H101HF1 x STOCK Oca2<p-cp>/Oca2<p-bs>/H
Attribute String: mutant stock, radiation induced mutation
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Allele
Oca2<p-6H> | MGI:1856125
 
Name: oculocutaneous albinism II; pink-eyed dilution 6 Harwell
Allele Type: Radiation induced
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Publication
- | J:13430
 
First Author: Phillips RJS
Year: 1965
Journal: Mouse News Lett
Title: A new allele at the p-locus, p24H.
Volume: 32
Pages: 39
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Allele
Herc2<Gt(AR0530)Wtsi> | MGI:4346577
Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2; gene trap AR0530, Wellcome Trust Sanger Institute
Allele Type: Gene trapped
Attribute String: Null/knockout
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Allele
Dp(7Herc2-Mkrn3)1Taku | MGI:4359729
 
Name: duplication, Chr 7, Toru Takumi 1
Allele Type: Targeted
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: Not Specified
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: Not Specified
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Herc2/Herc2<+> Oca2/Oca2<+>
Background: Not Specified
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Herc2/Herc2<+> Oca2/Oca2<+>
Background: Not Specified
Zygosity: cx
Has Mutant Allele: true
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Strain
MGI:5655213 | STOCK Oca2<p-6H>/Oca2<p-d>
Attribute String: mutant stock, radiation induced mutation
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Strain
MGI:2164610 | STOCK Oca2<p-d>/Oca2<p-6H>/J
Attribute String: mutant stock, radiation induced mutation
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Publication
- | J:157683
 
First Author: Phillips RJS
Year: 1964
Journal: Mouse News Lett
Title: p6H
Volume: 31
Pages: 25
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Strain
MGI:6146499 | B6.129S7-Dp(7Herc2-Mkrn3)1Taku/TakuRbrc
Attribute String: mutant strain, congenic, targeted mutation
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Strain
MGI:5755136 | B6J.129S7-Dp(7Herc2-Mkrn3)1Taku
Attribute String: congenic, mutant strain, targeted mutation, duplication, chromosome aberration
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Publication
19563756 | J:151648
First Author: Nakatani J
Year: 2009
Journal: Cell
Title: Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism.
Volume: 137
Issue: 7
Pages: 1235-46
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Publication
28851986 | J:256480
First Author: Lewis KE
Year: 2017
Journal: Sci Rep
Title: Skeletal Site-specific Changes in Bone Mass in a Genetic Mouse Model for Human 15q11-13 Duplication Seen in Autism.
Volume: 7
Issue: 1
Pages: 9902
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Publication
21179543 | J:168991
First Author: Tamada K
Year: 2010
Journal: PLoS One
Title: Decreased exploratory activity in a mouse model of 15q duplication syndrome; implications for disturbance of serotonin signaling.
Volume: 5
Issue: 12
Pages: e15126
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Publication
32076634 | J:287151
First Author: Tsurugizawa T
Year: 2020
Journal: Sci Adv
Title: Awake functional MRI detects neural circuit dysfunction in a mouse model of autism.
Volume: 6
Issue: 6
Pages: eaav4520
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Publication
26002101 | J:223931
First Author: Kishimoto R
Year: 2015
Journal: Hum Mol Genet
Title: Model mice for 15q11-13 duplication syndrome exhibit late-onset obesity and altered lipid metabolism.
Volume: 24
Issue: 16
Pages: 4559-72
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Publication
32831117 | J:303877
First Author: Saitow F
Year: 2020
Journal: Mol Brain
Title: Upregulated 5-HT1A receptor-mediated currents in the prefrontal cortex layer 5 neurons in the 15q11-13 duplication mouse model of autism.
Volume: 13
Issue: 1
Pages: 115
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Publication
28691086 | J:260252
First Author: Nakai N
Year: 2017
Journal: Sci Adv
Title: Serotonin rebalances cortical tuning and behavior linked to autism symptoms in 15q11-13 CNV mice.
Volume: 3
Issue: 6
Pages: e1603001
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Publication
30209293 | J:278843
First Author: Nagano M
Year: 2018
Journal: Sci Rep
Title: Critical roles of serotonin-oxytocin interaction during the neonatal period in social behavior in 15q dup mice with autistic traits.
Volume: 8
Issue: 1
Pages: 13675
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Publication
25418414 | J:225285
 
First Author: Piochon C
Year: 2014
Journal: Nat Commun
Title: Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism.
Volume: 5
Pages: 5586
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/H * C3H/HeH
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Dp(7Herc2-Mkrn3)1Taku/?
Background: involves: 129S7/SvEvBrd * C57BL/6
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Dp(7Herc2-Mkrn3)1Taku/?
Background: involves: 129S7/SvEvBrd * C57BL/6J
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Dp(7Herc2-Mkrn3)1Taku/?
Background: B6J.129S7-Dp(7Herc2-Mkrn3)1Taku
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Herc2/Herc2<+> Oca2/Oca2<+>
Background: Not Specified
Zygosity: cx
Has Mutant Allele: true
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Publication
29025994 | J:243759
     
First Author: Crawford NG
Year: 2017
Journal: Science
Title: Loci associated with skin pigmentation identified in African populations.
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Protein
E9Q6H4
Organism: Mus musculus/domesticus
Length: 649  
Fragment?: false
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Genotype
Genotype
Symbol: Herc2/Herc2
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Herc2/Herc2 Trp53/Trp53
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Herc2/Herc2<+>
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: Not Specified
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: Not Specified
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Oca2/Oca2
Background: involves: 101/Rl * C3H/Rl
Zygosity: ht
Has Mutant Allele: true
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Publication
21193487 | J:173726
First Author: Kang TH
Year: 2011
Journal: Nucleic Acids Res
Title: Regulation of nucleotide excision repair activity by transcriptional and post-transcriptional control of the XPA protein.
Volume: 39
Issue: 8
Pages: 3176-87
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Publication
23609791 | J:198496
First Author: Resnick JL
Year: 2013
Journal: Mamm Genome
Title: Recommendations for the investigation of animal models of Prader-Willi syndrome.
Volume: 24
Issue: 5-6
Pages: 165-78
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Publication
31160454 | J:276556
First Author: Wang J
Year: 2019
Journal: Proc Natl Acad Sci U S A
Title: UBE3A-mediated PTPA ubiquitination and degradation regulate PP2A activity and dendritic spine morphology.
Volume: 116
Issue: 25
Pages: 12500-12505
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Publication
22916201 | J:190050
First Author: Farook MF
Year: 2012
Journal: PLoS One
Title: Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models.
Volume: 7
Issue: 8
Pages: e43030
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Protein
Q3U270
Organism: Mus musculus/domesticus
Length: 728  
Fragment?: true
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Publication
8389469 | J:12553
First Author: Culiat CT
Year: 1993
Journal: Proc Natl Acad Sci U S A
Title: Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor.
Volume: 90
Issue: 11
Pages: 5105-9
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Publication
1673574 | J:11138
First Author: Brilliant MH
Year: 1991
Journal: Science
Title: Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning.
Volume: 252
Issue: 5005
Pages: 566-9
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Strain
MGI:2164633 | STOCK Oca2<p-J>/Oca2<p-bs>/J
Attribute String: mutant stock, spontaneous mutation, radiation induced mutation
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Publication
25144834 | J:274559
 
First Author: Isshiki M
Year: 2014
Journal: Nat Commun
Title: Enhanced synapse remodelling as a common phenotype in mouse models of autism.
Volume: 5
Pages: 4742
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Publication
34210967 | J:328507
First Author: Tamada K
Year: 2021
Journal: Nat Commun
Title: Genetic dissection identifies Necdin as a driver gene in a mouse model of paternal 15q duplications.
Volume: 12
Issue: 1
Pages: 4056
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Protein
F6Q1R4
Organism: Mus musculus/domesticus
Length: 577  
Fragment?: true
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Publication
10998130 | J:64978
First Author: Lehman AL
Year: 2000
Journal: J Invest Dermatol
Title: The underwhite (uw) locus acts autonomously and reduces the production of melanin.
Volume: 115
Issue: 4
Pages: 601-6
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Publication
10068480 | J:53277
First Author: Orlow SJ
Year: 1999
Journal: Exp Eye Res
Title: The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye.
Volume: 68
Issue: 2
Pages: 147-54
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Publication
36990094 | J:335224
   
First Author: Nakai N
Year: 2023
Journal: Cell Rep
Title: Virtual reality-based real-time imaging reveals abnormal cortical dynamics during behavioral transitions in a mouse model of autism.
Pages: 112258
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Publication
15476823 | -
First Author: Legge GB
Year: 2004
Journal: J Mol Biol
Title: ZZ domain of CBP: an unusual zinc finger fold in a protein interaction module.
Volume: 343
Issue: 4
Pages: 1081-93
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Protein
C6EQH2
Organism: Mus musculus/domesticus
Length: 4746  
Fragment?: false
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Publication
1509264 | J:2206
First Author: Gardner JM
Year: 1992
Journal: Science
Title: The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.
Volume: 257
Issue: 5073
Pages: 1121-4
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Publication
22900207 | J:196805
 
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
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Publication
8848831 | -
First Author: Ponting CP
Year: 1996
Journal: Trends Biochem Sci
Title: ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins.
Volume: 21
Issue: 1
Pages: 11-13
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Publication
27050589 | J:235088
First Author: de la Torre-Ubieta L
Year: 2016
Journal: Nat Med
Title: Advancing the understanding of autism disease mechanisms through genetics.
Volume: 22
Issue: 4
Pages: 345-61
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Protein
Q8VE73
Organism: Mus musculus/domesticus
Length: 1689  
Fragment?: false
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Protein
A9C491
Organism: Mus musculus/domesticus
Length: 1689  
Fragment?: false
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Publication
23010509 | J:221700
 
First Author: Schwartzer JJ
Year: 2013
Journal: Neurotoxicol Teratol
Title: Using mouse models of autism spectrum disorders to study the neurotoxicology of gene-environment interactions.
Volume: 36
Pages: 17-35
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Protein
E9QP09
Organism: Mus musculus/domesticus
Length: 2520  
Fragment?: false
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Protein
S4R1Y1
Organism: Mus musculus/domesticus
Length: 2530  
Fragment?: false
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Publication
- | J:78801
       
First Author: Silvers WK
Year: 1979
Title: The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction
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Publication
17242355 | -
First Author: Villén J
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: Large-scale phosphorylation analysis of mouse liver.
Volume: 104
Issue: 5
Pages: 1488-93
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Publication
15489334 | -
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
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Publication
21183079 | J:292518
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
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Publication
19468303 | -
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
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