Type |
Details |
Score |
Allele |
Name: |
DNA cross-link repair 1C; 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 |
|
•
•
•
•
•
|
Allele |
Name: |
DNA cross-link repair 1C; targeted mutation 2, Morton J Cowan |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
DNA cross-link repair 1C; targeted mutation 1, JoAnn Sekiguchi |
Allele Type: |
Targeted |
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
Dclre1c/Dclre1c |
Background: |
involves: 129/Sv * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Dclre1c/Dclre1c |
Background: |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 1, Lionel Larue |
Allele Type: |
Transgenic |
Attribute String: |
Inducible, Recombinase |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
ATM acts as a DNA damage sensor upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA) [, ]. It regulate DNA damage response mechanism through recognising the substrate consensus sequence [ST]-Q and phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs) []. On DNA damage, autophosphorylation dissociates ATM into monomers rendering them catalytically active [, ]. It can phosphorylate DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C [, , , , ]. ATM is also required for telomere elongation []. ATM also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes []. It isalso involved in signal transduction and cell cycle control and may function as a tumour suppressor [].This entry represents the catalytic domain found in serine-protein kinase ATM. |
|
•
•
•
•
•
|
Publication |
First Author: |
Lim DS |
Year: |
1998 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
ATM binds to beta-adaptin in cytoplasmic vesicles. |
Volume: |
95 |
Issue: |
17 |
Pages: |
10146-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Burma S |
Year: |
2001 |
Journal: |
J Biol Chem |
Title: |
ATM phosphorylates histone H2AX in response to DNA double-strand breaks. |
Volume: |
276 |
Issue: |
45 |
Pages: |
42462-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hewitt SL |
Year: |
2009 |
Journal: |
Nat Immunol |
Title: |
RAG-1 and ATM coordinate monoallelic recombination and nuclear positioning of immunoglobulin loci. |
Volume: |
10 |
Issue: |
6 |
Pages: |
655-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Matsuoka S |
Year: |
2000 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro. |
Volume: |
97 |
Issue: |
19 |
Pages: |
10389-94 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bakkenist CJ |
Year: |
2003 |
Journal: |
Nature |
Title: |
DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. |
Volume: |
421 |
Issue: |
6922 |
Pages: |
499-506 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kozlov SV |
Year: |
2006 |
Journal: |
EMBO J |
Title: |
Involvement of novel autophosphorylation sites in ATM activation. |
Volume: |
25 |
Issue: |
15 |
Pages: |
3504-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Becker-Catania SG |
Year: |
2000 |
Journal: |
Mol Genet Metab |
Title: |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. |
Volume: |
70 |
Issue: |
2 |
Pages: |
122-33 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jung M |
Year: |
1997 |
Journal: |
Cancer Res |
Title: |
ATM gene product phosphorylates I kappa B-alpha. |
Volume: |
57 |
Issue: |
1 |
Pages: |
24-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Khanna KK |
Year: |
1998 |
Journal: |
Nat Genet |
Title: |
ATM associates with and phosphorylates p53: mapping the region of interaction. |
Volume: |
20 |
Issue: |
4 |
Pages: |
398-400 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cortez D |
Year: |
1999 |
Journal: |
Science |
Title: |
Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. |
Volume: |
286 |
Issue: |
5442 |
Pages: |
1162-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lim DS |
Year: |
2000 |
Journal: |
Nature |
Title: |
ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. |
Volume: |
404 |
Issue: |
6778 |
Pages: |
613-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lee SS |
Year: |
2015 |
Journal: |
Cell Rep |
Title: |
ATM Kinase Is Required for Telomere Elongation in Mouse and Human Cells. |
Volume: |
13 |
Issue: |
8 |
Pages: |
1623-32 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, mutant strain, congenic |
|
•
•
•
•
•
|
Publication |
First Author: |
Park BJ |
Year: |
2005 |
Journal: |
Cell |
Title: |
The haploinsufficient tumor suppressor p18 upregulates p53 via interactions with ATM/ATR. |
Volume: |
120 |
Issue: |
2 |
Pages: |
209-21 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This family consists of serine/threonine protein kinases, including human ATM (Ataxia-Telangiectasia Mutated) and fungal Tel1.ATM acts as a DNA damage sensor upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA) [, ]. It regulate DNA damage response mechanism through recognizing the substrate consensus sequence [ST]-Q and phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs) []. On DNA damage, autophosphorylation dissociates ATM into monomers rendering them catalytically active [, ]. It can phosphorylate DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C [, , , , ]. ATM is also required for telomere elongation []. ATM also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes []. It is also involved in signal transduction and cell cycle control and may function as a tumour suppressor []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Gembarska A |
Year: |
2012 |
Journal: |
Nat Med |
Title: |
MDM4 is a key therapeutic target in cutaneous melanoma. |
Volume: |
18 |
Issue: |
8 |
Pages: |
1239-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Diener J |
Year: |
2021 |
Journal: |
Nat Commun |
Title: |
Epigenetic control of melanoma cell invasiveness by the stem cell factor SALL4. |
Volume: |
12 |
Issue: |
1 |
Pages: |
5056 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yajima I |
Year: |
2006 |
Journal: |
Genesis |
Title: |
Spatiotemporal gene control by the Cre-ERT2 system in melanocytes. |
Volume: |
44 |
Issue: |
1 |
Pages: |
34-43 |
|
•
•
•
•
•
|
Publication |
First Author: |
Milagre C |
Year: |
2010 |
Journal: |
Cancer Res |
Title: |
A mouse model of melanoma driven by oncogenic KRAS. |
Volume: |
70 |
Issue: |
13 |
Pages: |
5549-57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pedersen M |
Year: |
2013 |
Journal: |
Cancer Discov |
Title: |
Primary melanoma of the CNS in children is driven by congenital expression of oncogenic NRAS in melanocytes. |
Volume: |
3 |
Issue: |
4 |
Pages: |
458-469 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Braf/Braf<+> Tg(Tyr-cre/ERT2)1Lru/? |
Background: |
involves: C57BL/6 * DBA/2 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Braf/Braf<+> Kras/Kras<+> Tg(Tyr-cre/ERT2)1Lru/? |
Background: |
involves: 129S4/SvJae * C57BL/6 * DBA/2 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nras/Nras Tg(Tyr-cre/ERT2)1Lru/? |
Background: |
involves: C57BL/6 * DBA/2 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nras/Nras<+> Tg(Tyr-cre/ERT2)1Lru/? |
Background: |
involves: C57BL/6 * DBA/2 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Tg(Tyr-cre/ERT2)1Lru/? |
Background: |
involves: 129S4/SvJaeSor * C57BL/6 * DBA/2 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Olmeda D |
Year: |
2017 |
Journal: |
Nature |
Title: |
Whole-body imaging of lymphovascular niches identifies pre-metastatic roles of midkine. |
Volume: |
546 |
Issue: |
7660 |
Pages: |
676-680 |
|
•
•
•
•
•
|
Publication |
First Author: |
Heidorn SJ |
Year: |
2010 |
Journal: |
Cell |
Title: |
Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. |
Volume: |
140 |
Issue: |
2 |
Pages: |
209-21 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hooijkaas AI |
Year: |
2012 |
Journal: |
Am J Pathol |
Title: |
Targeting BRAFV600E in an inducible murine model of melanoma. |
Volume: |
181 |
Issue: |
3 |
Pages: |
785-94 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dhomen N |
Year: |
2009 |
Journal: |
Cancer Cell |
Title: |
Oncogenic Braf induces melanocyte senescence and melanoma in mice. |
Volume: |
15 |
Issue: |
4 |
Pages: |
294-303 |
|
•
•
•
•
•
|
Publication |
First Author: |
Colombo S |
Year: |
2022 |
Journal: |
Development |
Title: |
Stabilization of β-catenin promotes melanocyte specification at the expense of the Schwann cell lineage. |
Volume: |
149 |
Issue: |
2 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Vandamme N |
Year: |
2020 |
Journal: |
Cancer Res |
Title: |
The EMT Transcription Factor ZEB2 Promotes Proliferation of Primary and Metastatic Melanoma While Suppressing an Invasive, Mesenchymal-Like Phenotype. |
Volume: |
80 |
Issue: |
14 |
Pages: |
2983-2995 |
|
•
•
•
•
•
|
Publication |
First Author: |
Braun AD |
Year: |
2020 |
Journal: |
J Invest Dermatol |
Title: |
Activated Hgf-Met Signaling Cooperates with Oncogenic BRAF to Drive Primary Cutaneous Melanomas and Angiotropic Lung Metastases in Mice. |
Volume: |
140 |
Issue: |
7 |
Pages: |
1410-1417.e2 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hölzel M |
Year: |
2016 |
Journal: |
Cancer Res |
Title: |
A Preclinical Model of Malignant Peripheral Nerve Sheath Tumor-like Melanoma Is Characterized by Infiltrating Mast Cells. |
Volume: |
76 |
Issue: |
2 |
Pages: |
251-63 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
Deken MA |
Year: |
2016 |
Journal: |
Int J Mol Sci |
Title: |
Dermal Delivery of Constructs Encoding Cre Recombinase to Induce Skin Tumors in PtenLoxP/LoxP;BrafCA/+ Mice. |
Volume: |
17 |
Issue: |
12 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Sanchez-Laorden B |
Year: |
2014 |
Journal: |
Sci Signal |
Title: |
BRAF inhibitors induce metastasis in RAS mutant or inhibitor-resistant melanoma cells by reactivating MEK and ERK signaling. |
Volume: |
7 |
Issue: |
318 |
Pages: |
ra30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rae J |
Year: |
2012 |
Journal: |
J Invest Dermatol |
Title: |
(V600E)Braf::Tyr-CreERT2::K14-Kitl mice do not develop superficial spreading-like melanoma: keratinocyte Kit ligand is insufficient to "translocate" (V600E)Braf-driven melanoma to the epidermis. |
Volume: |
132 |
Issue: |
2 |
Pages: |
488-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
van Tuyn J |
Year: |
2017 |
Journal: |
J Invest Dermatol |
Title: |
Oncogene-Expressing Senescent Melanocytes Up-Regulate MHC Class II, a Candidate Melanoma Suppressor Function. |
Volume: |
137 |
Issue: |
10 |
Pages: |
2197-2207 |
|
•
•
•
•
•
|
Publication |
First Author: |
Boussouar A |
Year: |
2020 |
Journal: |
Cancer Res |
Title: |
Netrin-1 and Its Receptor DCC Are Causally Implicated in Melanoma Progression. |
Volume: |
80 |
Issue: |
4 |
Pages: |
747-756 |
|
•
•
•
•
•
|
Publication |
First Author: |
Galvani E |
Year: |
2020 |
Journal: |
Nat Commun |
Title: |
Stroma remodeling and reduced cell division define durable response to PD-1 blockade in melanoma. |
Volume: |
11 |
Issue: |
1 |
Pages: |
853 |
|
•
•
•
•
•
|
Publication |
First Author: |
Trucco LD |
Year: |
2019 |
Journal: |
Nat Med |
Title: |
Ultraviolet radiation-induced DNA damage is prognostic for outcome in melanoma. |
Volume: |
25 |
Issue: |
2 |
Pages: |
221-224 |
|
•
•
•
•
•
|
Publication |
First Author: |
Trucco LD |
Year: |
2021 |
Journal: |
J Invest Dermatol |
Title: |
Map3k1 Loss Cooperates with BrafV600E to Drive Melanomagenesis. |
Volume: |
141 |
Issue: |
1 |
Pages: |
221-225.e6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Aktary Z |
Year: |
2019 |
Journal: |
Pigment Cell Melanoma Res |
Title: |
Sequencing two Tyr::CreERT2 transgenic mouse lines. |
|
|
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
Braf/Braf Cdkn2a/Cdkn2a Tg(Tyr-cre/ERT2)1Lru/? |
Background: |
involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * DBA/2 * SJL |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Braf/Braf Tg(Tyr-cre/ERT2)1Lru/? |
Background: |
involves: 129P2/OlaHsd * C57BL/6 * DBA/2 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Braf/Braf<+> Tg(GFP/KRAS2/ALPP)1Brn/? Tg(Tyr-cre/ERT2)1Lru/? |
Background: |
involves: C57BL/6 * DBA/2 * FVB/N |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Braf/Braf<+> Pten/Pten Tg(Tyr-cre/ERT2)1Lru/? |
Background: |
B6.Cg-Braf Tg(Tyr-cre/ERT2)1Lru Pten |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Karras P |
Year: |
2019 |
Journal: |
Cancer Cell |
Title: |
p62/SQSTM1 Fuels Melanoma Progression by Opposing mRNA Decay of a Selective Set of Pro-metastatic Factors. |
Volume: |
35 |
Issue: |
1 |
Pages: |
46-63.e10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li A |
Year: |
2011 |
Journal: |
Dev Cell |
Title: |
Rac1 drives melanoblast organization during mouse development by orchestrating pseudopod- driven motility and cell-cycle progression. |
Volume: |
21 |
Issue: |
4 |
Pages: |
722-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li A |
Year: |
2012 |
Journal: |
J Invest Dermatol |
Title: |
Activated mutant NRas(Q61K) drives aberrant melanocyte signaling, survival, and invasiveness via a Rac1-dependent mechanism. |
Volume: |
132 |
Issue: |
11 |
Pages: |
2610-21 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dorard C |
Year: |
2017 |
Journal: |
Nat Commun |
Title: |
RAF proteins exert both specific and compensatory functions during tumour progression of NRAS-driven melanoma. |
Volume: |
8 |
|
Pages: |
15262 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yajima I |
Year: |
2013 |
Journal: |
PLoS One |
Title: |
A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus. |
Volume: |
8 |
Issue: |
1 |
Pages: |
e53183 |
|
•
•
•
•
•
|
Publication |
First Author: |
Le Coz M |
Year: |
2021 |
Journal: |
J Invest Dermatol |
Title: |
Targeted Knockout of β-Catenin in Adult Melanocyte Stem Cells Using a Mouse Line, Dct::CreERT2, Results in Disrupted Stem Cell Renewal and Pigmentation Defects. |
Volume: |
141 |
Issue: |
5 |
Pages: |
1363-1366.e9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Smith MP |
Year: |
2014 |
Journal: |
Cancer Discov |
Title: |
The immune microenvironment confers resistance to MAPK pathway inhibitors through macrophage-derived TNFα. |
Volume: |
4 |
Issue: |
10 |
Pages: |
1214-1229 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hamm M |
Year: |
2021 |
Journal: |
Nat Commun |
Title: |
BRN2 is a non-canonical melanoma tumor-suppressor. |
Volume: |
12 |
Issue: |
1 |
Pages: |
3707 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kümper S |
Year: |
2016 |
Journal: |
Elife |
Title: |
Rho-associated kinase (ROCK) function is essential for cell cycle progression, senescence and tumorigenesis. |
Volume: |
5 |
|
Pages: |
e12994 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
201
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Yao W |
Year: |
2022 |
Journal: |
JCI Insight |
Title: |
Keratinocyte-derived cytokine TSLP promotes growth and metastasis of melanoma by regulating the tumor-associated immune microenvironment. |
Volume: |
7 |
Issue: |
21 |
|
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
790
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3066
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3063
 |
Fragment?: |
false |
|
•
•
•
•
•
|