Type |
Details |
Score |
Genotype |
Symbol: |
Tg(Myh6-Tnnt2*)1Feah/? Tnnt2/Tnnt2<+> |
Background: |
involves: 129S/SvEv * 129S6/SvEvTac * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Ishizu T |
Year: |
2017 |
Journal: |
Sci Rep |
Title: |
Targeted Genome Replacement via Homology-directed Repair in Non-dividing Cardiomyocytes. |
Volume: |
7 |
Issue: |
1 |
Pages: |
9363 |
|
•
•
•
•
•
|
Publication |
First Author: |
Morita T |
Year: |
2023 |
Journal: |
FEBS Open Bio |
Title: |
Actin-related protein 5 suppresses the cooperative activation of cardiac gene transcription by myocardin and MEF2. |
Volume: |
13 |
Issue: |
2 |
Pages: |
363-379 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
114
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Gerull B |
Year: |
1998 |
Journal: |
Hum Mutat |
Title: |
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. |
Volume: |
11 |
Issue: |
2 |
Pages: |
179-82 |
|
•
•
•
•
•
|
Publication |
First Author: |
Johnston JJ |
Year: |
2000 |
Journal: |
Am J Hum Genet |
Title: |
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. |
Volume: |
67 |
Issue: |
4 |
Pages: |
814-21 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ho CY |
Year: |
2000 |
Journal: |
Circulation |
Title: |
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. |
Volume: |
102 |
Issue: |
16 |
Pages: |
1950-5 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
The troponin (Tn) complex regulates calcium-induced muscle contraction. Tn contains three subunits, Ca2+ binding (TnC), inhibitory (TnI), and tropomyosin binding (TnT), which is required for Ca(2+)-mediated activation of actomyosin ATPase activity [, ]. Three different troponin T genes that encode tissue-specific isoforms of subunit T have been found in mammals and birds, encoding cardiac (TNNT2), slow (TNNT1), and fast (TNNT3) skeletal muscle TnT isoforms [, , , ].Mutations of the TNNT1gene cause nemaline myopathy [], while mutations of the TNNT2 gene cause familial hypertrophic cardiomyopathy [, ], and mutations of the TNNT3 gene cause Arthrogryposis, distal, 2B2 (DA2B2) []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Chowdhury SAK |
Year: |
2020 |
Journal: |
Front Physiol |
Title: |
Modifications of Sarcoplasmic Reticulum Function Prevent Progression of Sarcomere-Linked Hypertrophic Cardiomyopathy Despite a Persistent Increase in Myofilament Calcium Response. |
Volume: |
11 |
|
Pages: |
107 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lu D |
Year: |
2013 |
Journal: |
Transgenic Res |
Title: |
WIF1 causes dysfunction of heart in transgenic mice. |
Volume: |
22 |
Issue: |
6 |
Pages: |
1179-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lu D |
Year: |
2018 |
Journal: |
Cardiovasc Res |
Title: |
Meox1 accelerates myocardial hypertrophic decompensation through Gata4. |
Volume: |
114 |
Issue: |
2 |
Pages: |
300-311 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tsybouleva N |
Year: |
2004 |
Journal: |
Circulation |
Title: |
Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy. |
Volume: |
109 |
Issue: |
10 |
Pages: |
1284-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
Huke S |
Year: |
2013 |
Journal: |
Circ Res |
Title: |
Focal energy deprivation underlies arrhythmia susceptibility in mice with calcium-sensitized myofilaments. |
Volume: |
112 |
Issue: |
10 |
Pages: |
1334-44 |
|
•
•
•
•
•
|
Publication |
First Author: |
Knollmann BC |
Year: |
2003 |
Journal: |
Circ Res |
Title: |
Familial hypertrophic cardiomyopathy-linked mutant troponin T causes stress-induced ventricular tachycardia and Ca2+-dependent action potential remodeling. |
Volume: |
92 |
Issue: |
4 |
Pages: |
428-36 |
|
•
•
•
•
•
|
Publication |
First Author: |
Westermann D |
Year: |
2006 |
Journal: |
Eur J Heart Fail |
Title: |
Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. |
Volume: |
8 |
Issue: |
2 |
Pages: |
115-21 |
|
•
•
•
•
•
|
Publication |
First Author: |
Schober T |
Year: |
2012 |
Journal: |
Circ Res |
Title: |
Myofilament Ca sensitization increases cytosolic Ca binding affinity, alters intracellular Ca homeostasis, and causes pause-dependent Ca-triggered arrhythmia. |
Volume: |
111 |
Issue: |
2 |
Pages: |
170-9 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
212
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
168
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
206
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
118
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Prendiville TW |
Year: |
2015 |
Journal: |
PLoS One |
Title: |
Novel Roles of GATA4/6 in the Postnatal Heart Identified through Temporally Controlled, Cardiomyocyte-Specific Gene Inactivation by Adeno-Associated Virus Delivery of Cre Recombinase. |
Volume: |
10 |
Issue: |
5 |
Pages: |
e0128105 |
|
•
•
•
•
•
|
Publication |
First Author: |
Beraldi R |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy. |
Volume: |
23 |
Issue: |
14 |
Pages: |
3779-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
Morroll S |
Year: |
2001 |
Journal: |
Immunogenetics |
Title: |
The genes encoding E-selectin (SELE) and lymphotactin (SCYC1) lie on separate chicken chromosomes although they are closely linked in human and mouse. |
Volume: |
53 |
Issue: |
6 |
Pages: |
477-82 |
|
•
•
•
•
•
|
Publication |
First Author: |
Luedde M |
Year: |
2010 |
Journal: |
Cardiovasc Res |
Title: |
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. |
Volume: |
86 |
Issue: |
3 |
Pages: |
452-60 |
|
•
•
•
•
•
|
Publication |
First Author: |
Boogerd CJ |
Year: |
2018 |
Journal: |
Circ Res |
Title: |
Tbx20 Is Required in Mid-Gestation Cardiomyocytes and Plays a Central Role in Atrial Development. |
Volume: |
123 |
Issue: |
4 |
Pages: |
428-442 |
|
•
•
•
•
•
|
Publication |
First Author: |
Benitez-Amaro A |
Year: |
2020 |
Journal: |
Metabolism |
Title: |
Low-density lipoprotein receptor-related protein 1 deficiency in cardiomyocytes reduces susceptibility to insulin resistance and obesity. |
Volume: |
106 |
|
Pages: |
154191 |
|
•
•
•
•
•
|
Publication |
First Author: |
Oberst L |
Year: |
1998 |
Journal: |
J Clin Invest |
Title: |
Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. |
Volume: |
102 |
Issue: |
8 |
Pages: |
1498-505 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lehman SJ |
Year: |
2019 |
Journal: |
Circulation |
Title: |
Chronic Calmodulin-Kinase II Activation Drives Disease Progression in Mutation-Specific Hypertrophic Cardiomyopathy. |
Volume: |
139 |
Issue: |
12 |
Pages: |
1517-1529 |
|
•
•
•
•
•
|
Publication |
First Author: |
Montgomery DE |
Year: |
2001 |
Journal: |
J Physiol |
Title: |
Cardiac troponin T mutations: correlation between the type of mutation and the nature of myofilament dysfunction in transgenic mice. |
Volume: |
536 |
Issue: |
Pt 2 |
Pages: |
583-92 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vakrou S |
Year: |
2018 |
Journal: |
JCI Insight |
Title: |
Allele-specific differences in transcriptome, miRNome, and mitochondrial function in two hypertrophic cardiomyopathy mouse models. |
Volume: |
3 |
Issue: |
6 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Vakrou S |
Year: |
2021 |
Journal: |
Sci Rep |
Title: |
Differences in molecular phenotype in mouse and human hypertrophic cardiomyopathy. |
Volume: |
11 |
Issue: |
1 |
Pages: |
13163 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu Y |
Year: |
2019 |
Journal: |
Front Cardiovasc Med |
Title: |
Differences in microRNA-29 and Pro-fibrotic Gene Expression in Mouse and Human Hypertrophic Cardiomyopathy. |
Volume: |
6 |
|
Pages: |
170 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lucas DT |
Year: |
2003 |
Journal: |
Am J Physiol Heart Circ Physiol |
Title: |
Alterations in mitochondrial function in a mouse model of hypertrophic cardiomyopathy. |
Volume: |
284 |
Issue: |
2 |
Pages: |
H575-83 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Znhit1/Znhit1 Tg(Tnnt2-rtTA,tetO-cre)1Wtp/? |
Background: |
involves: C57BL/6 * FVB/N |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Tnnt2/Tnnt2<+> |
Background: |
Not Specified |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
301
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Huang QQ |
Year: |
1999 |
Journal: |
Gene |
Title: |
Genomic sequence and structural organization of mouse slow skeletal muscle troponin T gene. |
Volume: |
229 |
Issue: |
1-2 |
Pages: |
1-10 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
262
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
298
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
302
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
250
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
140
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
261
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
249
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
301
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
207
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
107
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
191
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
295
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
302
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
261
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Wei B |
Year: |
2011 |
Journal: |
Arch Biochem Biophys |
Title: |
Troponin T isoforms and posttranscriptional modifications: Evolution, regulation and function. |
Volume: |
505 |
Issue: |
2 |
Pages: |
144-54 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gallon CE |
Year: |
2006 |
Journal: |
Arch Biochem Biophys |
Title: |
Differences in myofilament calcium sensitivity in rat psoas fibers reconstituted with troponin T isoforms containing the alpha- and beta-exons. |
Volume: |
456 |
Issue: |
2 |
Pages: |
127-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cooper TA |
Year: |
1985 |
Journal: |
J Biol Chem |
Title: |
A single cardiac troponin T gene generates embryonic and adult isoforms via developmentally regulated alternate splicing. |
Volume: |
260 |
Issue: |
20 |
Pages: |
11140-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jin JP |
Year: |
1992 |
Journal: |
J Mol Biol |
Title: |
Complete nucleotide sequence and structural organization of rat cardiac troponin T gene. A single gene generates embryonic and adult isoforms via developmentally regulated alternative splicing. |
Volume: |
227 |
Issue: |
4 |
Pages: |
1269-76 |
|
•
•
•
•
•
|
Publication |
First Author: |
Farza H |
Year: |
1998 |
Journal: |
J Mol Cell Cardiol |
Title: |
Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin T gene. |
Volume: |
30 |
Issue: |
6 |
Pages: |
1247-53 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sung SS |
Year: |
2003 |
Journal: |
Am J Hum Genet |
Title: |
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. |
Volume: |
73 |
Issue: |
1 |
Pages: |
212-4 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
272
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
259
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
250
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
254
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
255
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
268
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
214
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
248
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
263
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
272
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
262
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
310
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
259
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
259
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
239
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
239
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
262
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
272
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
244
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
272
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
250
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
248
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Luckey SW |
Year: |
2009 |
Journal: |
J Mol Cell Cardiol |
Title: |
The role of Akt/GSK-3beta signaling in familial hypertrophic cardiomyopathy. |
Volume: |
46 |
Issue: |
5 |
Pages: |
739-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang W |
Year: |
2016 |
Journal: |
Circulation |
Title: |
Critical Roles of STAT3 in β-Adrenergic Functions in the Heart. |
Volume: |
133 |
Issue: |
1 |
Pages: |
48-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hubbi ME |
Year: |
2014 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Cyclin-dependent kinases regulate lysosomal degradation of hypoxia-inducible factor 1α to promote cell-cycle progression. |
Volume: |
111 |
Issue: |
32 |
Pages: |
E3325-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
Han P |
Year: |
2014 |
Journal: |
Nature |
Title: |
A long noncoding RNA protects the heart from pathological hypertrophy. |
Volume: |
514 |
Issue: |
7520 |
Pages: |
102-106 |
|
•
•
•
•
•
|
Publication |
First Author: |
Han P |
Year: |
2016 |
Journal: |
Biochim Biophys Acta |
Title: |
Epigenetic response to environmental stress: Assembly of BRG1-G9a/GLP-DNMT3 repressive chromatin complex on Myh6 promoter in pathologically stressed hearts. |
Volume: |
1863 |
Issue: |
7 Pt B |
Pages: |
1772-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang D |
Year: |
2017 |
Journal: |
Nat Commun |
Title: |
REST regulates the cell cycle for cardiac development and regeneration. |
Volume: |
8 |
Issue: |
1 |
Pages: |
1979 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yu W |
Year: |
2016 |
Journal: |
Development |
Title: |
GATA4 regulates Fgf16 to promote heart repair after injury. |
Volume: |
143 |
Issue: |
6 |
Pages: |
936-49 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Zfpm2/Zfpm2 Tg(Tnnt2-rtTA,tetO-cre)1Wtp/? |
Background: |
involves: 129S1/Sv * 129S7/SvEvBrd |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Hathaway CK |
Year: |
2015 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Endothelin-1 critically influences cardiac function via superoxide-MMP9 cascade. |
Volume: |
112 |
Issue: |
16 |
Pages: |
5141-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhou B |
Year: |
2011 |
Journal: |
J Clin Invest |
Title: |
Adult mouse epicardium modulates myocardial injury by secreting paracrine factors. |
Volume: |
121 |
Issue: |
5 |
Pages: |
1894-904 |
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•
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Publication |
First Author: |
Hang CT |
Year: |
2010 |
Journal: |
Nature |
Title: |
Chromatin regulation by Brg1 underlies heart muscle development and disease. |
Volume: |
466 |
Issue: |
7302 |
Pages: |
62-7 |
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•
•
•
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Publication |
First Author: |
Pal S |
Year: |
2021 |
Journal: |
J Am Heart Assoc |
Title: |
Replication Stress Response Modifies Sarcomeric Cardiomyopathy Remodeling. |
Volume: |
10 |
Issue: |
15 |
Pages: |
e021768 |
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•
•
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Publication |
First Author: |
Zhou B |
Year: |
2009 |
Journal: |
J Clin Invest |
Title: |
Fog2 is critical for cardiac function and maintenance of coronary vasculature in the adult mouse heart. |
Volume: |
119 |
Issue: |
6 |
Pages: |
1462-76 |
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