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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Myh6+
wild type
MGI:2431497
Summary 13 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Myh6tm1Jse/Myh6+ 129S.129X1-Myh6tm1Jse MGI:3718111
ht2
 		Myh6tm1.1Jpsc/Myh6+ involves: 129 MGI:6356708
ht3
 		Myh6tm3.1Jse/Myh6+ involves: 129 MGI:6356707
ht4
 		Myh6tm2Jse/Myh6+ involves: 129 MGI:6356705
ht5
 		Myh6tm1Rbns/Myh6+ involves: 129P2/OlaHsd MGI:3652799
ht6
 		Myh6tm2Jse/Myh6+ involves: 129S1/Sv MGI:3664295
ht7
 		Myh6tm2Ces/Myh6+ involves: 129S/SvEv * 129X1/SvJ MGI:3691282
ht8
 		Myh6tm1Ces/Myh6+ involves: 129S/SvEv * 129X1/SvJ MGI:3691279
ht9
 		Myh6tm3.1Jse/Myh6+ involves: 129X1/SvJ MGI:4837384
ht10
 		Myh6tm1Jse/Myh6+ involves: 129X1/SvJ MGI:3531468
cx11
 		Myh6tm1Jse/Myh6+
Postntm1Jmol/Postntm1Jmol 		involves: 129S/SvEv * 129X1/SvJ MGI:4837387
cx12
 		Myh6tm1Jse/Myh6+
Tg(Myh6-TNNI3*G203S)1Chs/0 		involves: 129X1/SvJ * C57BL/6 MGI:5907166
cx13
 		Myh6tm1Jse/Myh6+
Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol/0
Tg(Myh6-tTA)55Rbns/0 		involves: 129X1/SvJ * FVB MGI:5897392


Genotype
MGI:3718111
ht1
Allelic
Composition		 Myh6tm1Jse/Myh6+
Genetic
Background		 129S.129X1-Myh6tm1Jse
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm1Jse mutation (2 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Myocyte disarray and cardiac fibrosis in Myh6tm1Jse/Myh6+ mice

cardiovascular system
myocardial fiber disarray ( J:104363 )
• myocyte disarray is seen in 29% of young and 40% of adult mutants, usually in the left ventricular wall or interventricular septum
cardiac hypertrophy ( J:104363 )
• develop cardiac hypertrophy with increasing age such that by 20-30 weeks of age, hypertrophy is uniformly present
abnormal heart left ventricle morphology ( J:104363 )
• mutants with inducible arrhythmias have greater left ventricular wall thickness and greater hypercontractility than mutants without inducible arrythmias, however observe no correlation between wall thickness and amount of fibrosis or myocyte disarray
cardiac fibrosis ( J:104363 )
• develop difusse and focal cardiac fibrosis with increasing age; total amount of fibrosis within each heart varies broadly
increased cardiac muscle contractility ( J:104363 )
• end-diastolic left ventricle dimensions are smaller and fractional shortening is increased
• mutants with inducible arrhythmias have greater hypercontractility than mutants without inducible arrythmias
irregular heartbeat ( J:104363 )
• ventricular tachyarrhythmia is induced in 25% of young and 69% of adults by rapid ventricular pacing at a cycle length of more than or equal to 50 ms; no arrhythmias are induced in wild-type

growth/size/body
cardiac hypertrophy ( J:104363 )
• develop cardiac hypertrophy with increasing age such that by 20-30 weeks of age, hypertrophy is uniformly present

muscle
myocardial fiber disarray ( J:104363 )
• myocyte disarray is seen in 29% of young and 40% of adult mutants, usually in the left ventricular wall or interventricular septum
increased cardiac muscle contractility ( J:104363 )
• end-diastolic left ventricle dimensions are smaller and fractional shortening is increased
• mutants with inducible arrhythmias have greater hypercontractility than mutants without inducible arrythmias

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 14 DOID:0110320 OMIM:613251
 J:104363




Genotype
MGI:6356708
ht2
Allelic
Composition		 Myh6tm1.1Jpsc/Myh6+
Genetic
Background		 involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm1.1Jpsc mutation (0 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
cardiovascular system phenotype ( J:247162 )
N
• end-diastolic left ventricular anterior wall thickness and dimensions, as well as fractional shortening are normal at 26 weeks of age and 8 week old mice show normal left ventricular pressures, contraction and relaxation
• hearts show no detectable morphological differences at 78 weeks of age
cardiac hypertrophy ( J:247162 )
• treatment with cyclosporine exacerbates the hypertrophic response, with mice developing symmetrical left ventricular wall thickening after 3 weeks of treatment

homeostasis/metabolism
increased physiological sensitivity to xenobiotic ( J:247162 )
• treatment with cyclosporine exacerbates the hypertrophic response, with mice developing symmetrical left ventricular wall thickening after 3 weeks of treatment

growth/size/body
cardiac hypertrophy ( J:247162 )
• treatment with cyclosporine exacerbates the hypertrophic response, with mice developing symmetrical left ventricular wall thickening after 3 weeks of treatment




Genotype
MGI:6356707
ht3
Allelic
Composition		 Myh6tm3.1Jse/Myh6+
Genetic
Background		 involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm3.1Jse mutation (0 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
myocardial fiber disarray ( J:247162 )
• myofiber disarray at 26 weeks of age
cardiac hypertrophy ( J:247162 )
• progressive concentric hypertrophy
thick ventricular wall ( J:247162 )
• left ventricular wall thickness is more than 20% greater than in wild-type mice at 26 weeks of age
cardiac interstitial fibrosis ( J:247162 )
• interstitial fibrosis at 26 weeks of age
increased cardiac muscle contractility ( J:247162 )
• % ejection fraction is increased
abnormal heart echocardiography feature ( J:247162 )
• echocardiography indicates increased left ventricular anterior wall thickness, left ventricular posterior wall thickness, and increased % ejection fraction

growth/size/body
cardiac hypertrophy ( J:247162 )
• progressive concentric hypertrophy

muscle
myocardial fiber disarray ( J:247162 )
• myofiber disarray at 26 weeks of age
increased cardiac muscle contractility ( J:247162 )
• % ejection fraction is increased

cellular
cardiac interstitial fibrosis ( J:247162 )
• interstitial fibrosis at 26 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 14 DOID:0110320 OMIM:613251
 J:247162




Genotype
MGI:6356705
ht4
Allelic
Composition		 Myh6tm2Jse/Myh6+
Genetic
Background		 involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm2Jse mutation (0 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
myocardial fiber disarray ( J:247162 )
• myofiber disarray at 26 weeks of age
cardiac hypertrophy ( J:247162 )
• progressive concentric hypertrophy
thick ventricular wall ( J:247162 )
• left ventricular wall thickness is more than 20% greater than in wild-type mice at 26 weeks of age
cardiac interstitial fibrosis ( J:247162 )
• interstitial fibrosis at 26 weeks of age
increased cardiac muscle contractility ( J:247162 )
• % ejection fraction is increased
abnormal heart echocardiography feature ( J:247162 )
• echocardiography indicates increased left ventricular anterior wall thickness, left ventricular posterior wall thickness, and increased % ejection fraction

growth/size/body
cardiac hypertrophy ( J:247162 )
• progressive concentric hypertrophy

muscle
myocardial fiber disarray ( J:247162 )
• myofiber disarray at 26 weeks of age
increased cardiac muscle contractility ( J:247162 )
• % ejection fraction is increased

cellular
cardiac interstitial fibrosis ( J:247162 )
• interstitial fibrosis at 26 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 14 DOID:0110320 OMIM:613251
 J:247162




Genotype
MGI:3652799
ht5
Allelic
Composition		 Myh6tm1Rbns/Myh6+
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm1Rbns mutation (0 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Fibrotic lesions in Myh6tm1Rbns/Myh6+ hearts

cardiovascular system
abnormal myocardial fiber morphology ( J:36089 )
• the average length of myofibrils is ~50% that of control lengths; the A bands of myofibrils occupy the entire sarcomeric length and I bands cant't be detected; A band length is reduced by approximately 75% relative to controls
• mutant sarcomeres are only 79% as long as controls
• myofibrils display numerous areas where thin filaments are absent compared to controls which have regular hexameric arrays of thick and thin filaments
abnormal heart ventricle morphology ( J:36089 )
• some of the heterozygotes (3/8) appear to have hypertrophy of the ventricular walls associated with occlusion of the left ventricular chamber
cardiac fibrosis ( J:36089 )
• many hearts show multifocal areas of fibrosis, most commonly in the apex and left ventricular wall; fibrosis is also frequently seen in the right ventricle and interventricular septum
decreased cardiac muscle contractility ( J:36089 )
• mutants display increased time to peak pressure, indicative of reduced contractility
decreased left ventricle diastolic pressure ( J:36089 )
• mutant hearts have diastolic IVPs that are 9mm Hg higher than wild-type
decreased left ventricle systolic pressure ( J:36089 )
• mutant hearts have systolic IVPs that are 14mm Hg lower than wild-type

muscle
abnormal myocardial fiber morphology ( J:36089 )
• the average length of myofibrils is ~50% that of control lengths; the A bands of myofibrils occupy the entire sarcomeric length and I bands cant't be detected; A band length is reduced by approximately 75% relative to controls
• mutant sarcomeres are only 79% as long as controls
• myofibrils display numerous areas where thin filaments are absent compared to controls which have regular hexameric arrays of thick and thin filaments
decreased cardiac muscle contractility ( J:36089 )
• mutants display increased time to peak pressure, indicative of reduced contractility




Genotype
MGI:3664295
ht6
Allelic
Composition		 Myh6tm2Jse/Myh6+
Genetic
Background		 involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm2Jse mutation (0 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
myocardial fiber disarray ( J:95600 )
• slight myocyte disarray is noticeable in tissue from apex of mutant hearts at 10-20 weeks of age
abnormal myocardial fiber physiology ( J:95600 )
• mutants show marked differences in cross-bridge kinetics of isolated myosin and skinned strips of myocardium
• maximal velocity (V) of regulated thin filament (RTF) in an in vitro motility assay is not changed compared to wild-type
• myosin concentration at half-maximal VRTF is not different from wild-type
• characteristic frequency for oscillatory work production in skinned strips is 18% higher in mutants vs wild-type
• calcium sensitivity for isometric tension in skinned strips (pCa50=5.82) is significantly enhanced compared to wild-type (pCa50=5.58)

muscle
myocardial fiber disarray ( J:95600 )
• slight myocyte disarray is noticeable in tissue from apex of mutant hearts at 10-20 weeks of age

homeostasis/metabolism
abnormal enzyme/coenzyme activity ( J:95600 )
• there is a 45% decrease in Vmax of actin-activated ATP hydrolysis in isolated myosin from mutant hearts at 10-20 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 14 DOID:0110320 OMIM:613251
 J:95600




Genotype
MGI:3691282
ht7
Allelic
Composition		 Myh6tm2Ces/Myh6+
Genetic
Background		 involves: 129S/SvEv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm2Ces mutation (0 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
dilated heart left ventricle ( J:114549 )
• show a gradual increase in left ventricle chamber size in some mutants by 12 weeks of age and in all mutants by 50 weeks of age
dilated cardiomyopathy ( J:114549 )
• exhibit a gradual development of dilated cardiomyopathy that is less pronounced than in Myh6tm1Ces heterozygotes
decreased cardiac muscle contractility ( J:114549 )
• isolated cardiac myocytes from 8-week old mutants have impaired contractile function, as indicated by reduced extent and rate of shortening, however to a lesser extent that in homozygotes

muscle
dilated cardiomyopathy ( J:114549 )
• exhibit a gradual development of dilated cardiomyopathy that is less pronounced than in Myh6tm1Ces heterozygotes
decreased cardiac muscle contractility ( J:114549 )
• isolated cardiac myocytes from 8-week old mutants have impaired contractile function, as indicated by reduced extent and rate of shortening, however to a lesser extent that in homozygotes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
dilated cardiomyopathy 1EE DOID:0110453 OMIM:613252
 J:114549




Genotype
MGI:3691279
ht8
Allelic
Composition		 Myh6tm1Ces/Myh6+
Genetic
Background		 involves: 129S/SvEv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm1Ces mutation (0 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
dilated heart left ventricle ( J:114549 )
• show a gradual increase in left ventricle chamber size in some mutants by 12 weeks of age and in all mutants by 50 weeks of age
dilated cardiomyopathy ( J:114549 )
• exhibit a gradual development of dilated cardiomyopathy that is more pronounced than in Myh6tm2Ces heterozygotes
decreased cardiac muscle contractility ( J:114549 )
• isolated cardiac myocytes from 8-week old mutants have impaired contractile function, as indicated by reduced extent and rate of shortening and slower rate of relaxation, however to a lesser extent than in homozygotes
abnormal cardiac muscle relaxation ( J:114549 )
• isolated cardiac myocytes from 8-week old mutants show a slower rate of relaxation than wild-type

muscle
dilated cardiomyopathy ( J:114549 )
• exhibit a gradual development of dilated cardiomyopathy that is more pronounced than in Myh6tm2Ces heterozygotes
decreased cardiac muscle contractility ( J:114549 )
• isolated cardiac myocytes from 8-week old mutants have impaired contractile function, as indicated by reduced extent and rate of shortening and slower rate of relaxation, however to a lesser extent than in homozygotes
abnormal cardiac muscle relaxation ( J:114549 )
• isolated cardiac myocytes from 8-week old mutants show a slower rate of relaxation than wild-type

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
dilated cardiomyopathy DOID:12930 OMIM:PS115200
 J:114549




Genotype
MGI:4837384
ht9
Allelic
Composition		 Myh6tm3.1Jse/Myh6+
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm3.1Jse mutation (0 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
heart left ventricle hypertrophy ( J:165269 )
• at 35 weeks but not prior to 20 weeks
thick ventricular wall ( J:165269 )
• cyclosporine A treatment accelerates development of increased left ventricular wall thickness (1.8-fold) unlike similarly treated wild-type mice
• mice treated with cyclosporine A and Tgf-beta neutralizing antibodies exhibit less maximal left ventricular wall thickness compared with mice treated with cyclosporine A and IgG
• mice treated with cyclosporin A and losartan exhibit less maximal left ventricular wall thickness compared with mice treated with only cyclosporin
• however, mice treated with cyclosporin A and losartan exhibit the same maximal left ventricular wall thickness as in similarly treated wild-type mice
cardiac fibrosis ( J:165269 )
• cyclosporine A treatment accelerates development of myocardial fibrosis (80-fold) unlike similarly treated wild-type mice
• mice treated with cyclosporine A and Tgf-beta neutralizing antibodies exhibit reduced cardiac fibrosis compared with mice treated with cyclosporine A and IgG
• mice treated with cyclosporin A and losartan exhibit 2.9-fold less fibrosis compared with mice treated with only cyclosporin A
abnormal cardiovascular system physiology ( J:165269 )
• non-myocyte cells from hypertrophic mice treated with cyclosporine A exhibit a 4-fold increase in proliferation compared with cells from similarly treated wild-type mice
• non-myocyte cells in regions with normal histological architecture from hypertrophic mice treated with cyclosporine A exhibit a 3.3-fold increase in proliferation compared with cells from similarly treated wild-type mice
• non-myocyte cells in left ventricular sections with focal fibrosis or overt interstitial expansion from hypertrophic mice treated with cyclosporine A exhibit a 4-fold increase in proliferation compared with cells from similarly treated wild-type mice
• proliferation of non-myocyte cells is greater in regions with focal fibrosis and expanded interstitium compared to in regions with normal architecture
• mice treated with cyclosporine A and Tgf-beta neutralizing antibodies exhibit reduced non-myocyte proliferation in regions with fibrosis and regions with preserved myocardial architecture compared with mice treated with cyclosporine A and IgG
• mice treated with cyclosporin A and losartan exhibit reduced non-myocyte cell proliferation in fibrotic regions (8-fold) and regions with preserved myocardial architecture compared with mice treated with mice treated with only cyclosporin A
• however, losartan treatment reduces proliferation in the hypertrophic hearts of mice treated with cyclosporin A to the level observed in similarly treated wild-type mice
cardiomyopathy ( J:165269 )
• mice exhibit hypertrophic cardiomyopathy at 35 weeks but not prior to 20 weeks
• cyclosporine A treatment accelerates development hypertrophic cardiomyopathy histopathology unlike similarly treated wild-type mice

homeostasis/metabolism
increased physiological sensitivity to xenobiotic ( J:165269 )
• cyclosporine A-treated mice accelerates increased left ventricular wall thickness (1.8-fold), overt hypertrophic cardiomyopathy histopathology, including myocardial fibrosis (80-fold), and preserved cardiac function unlike similarly treated wild-type mice

muscle
heart left ventricle hypertrophy ( J:165269 )
• at 35 weeks but not prior to 20 weeks
cardiomyopathy ( J:165269 )
• mice exhibit hypertrophic cardiomyopathy at 35 weeks but not prior to 20 weeks
• cyclosporine A treatment accelerates development hypertrophic cardiomyopathy histopathology unlike similarly treated wild-type mice

growth/size/body
heart left ventricle hypertrophy ( J:165269 )
• at 35 weeks but not prior to 20 weeks

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 14 DOID:0110320 OMIM:613251
 J:165269




Genotype
MGI:3531468
ht10
Allelic
Composition		 Myh6tm1Jse/Myh6+
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm1Jse mutation (2 available); any Myh6 mutation (206 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
abnormal locomotor activation ( J:32960 )
• reduced tolerance for vigorous exercise in swimming tests

cardiovascular system
abnormal heart morphology ( J:32960 )
• histological changes in heart tissue more consistent in males than females
abnormal myocardial fiber morphology ( J:32960 )
• hypertrophy of myocytes with large hyperchromatic nuclei by 30 weeks of age
myocardial fiber disarray ( J:32960 , J:95600 )
• myocardial fiber disarray becoming marked by 30 weeks of age (J:32960)
• slight myocyte disarray is noticeable in tissue from apex of mutant hearts at 10-20 weeks of age (J:95600)
abnormal heart atrium morphology ( J:32960 )
• some individuals with left atrial enlargement at 15 weeks of age, particularly among males
• left atrial enlargement more prevalent by 30 weeks of age, 100% of males and a third of females
cardiac fibrosis ( J:95600 )
• apexes of 2/4 mutant hearts have undergone slight but noticeable fibrosis and myocyte disarray compared to wild-type hearts
cardiac interstitial fibrosis ( J:32960 )
• moderate diffuse interstitial fibrosis by 30 weeks of age, starting as early as 15 weeks
• focal replacement granulation tissue at 30 weeks
abnormal heart ventricle pressure ( J:32960 , J:47028 )
• discontinuous pressure change with ventricular relaxation (J:32960)
• end diastolic pressure reduced with increased Calcium concentration during heart perfusion although systolic pressure is normal (J:47028)
irregular heartbeat ( J:32960 , J:47028 )
• longer duration of relaxation (J:32960)
• maximal rate of relaxation reduced (J:47028)
abnormal myocardial fiber physiology ( J:95600 )
• mutants show marked differences in cross-bridge kinetics of isolated myosin and skinned strips of myocardium
• maximal velocity (V) of regulated thin filament (RTF) in an in vitro motility assay is increased by 8% in mutants vs wild-type
• myosin concentration at half-maximal VRTF is reduced by 30% compared to wild-type
• characteristic frequency for oscillatory work production in skinned strips is 27% lower in mutants vs wild-type
• calcium sensitivity for isometric tension in skinned strips is comparable to wild-type

muscle
abnormal myocardial fiber morphology ( J:32960 )
• hypertrophy of myocytes with large hyperchromatic nuclei by 30 weeks of age
myocardial fiber disarray ( J:32960 , J:95600 )
• myocardial fiber disarray becoming marked by 30 weeks of age (J:32960)
• slight myocyte disarray is noticeable in tissue from apex of mutant hearts at 10-20 weeks of age (J:95600)

homeostasis/metabolism
abnormal enzyme/coenzyme activity ( J:95600 )
• isolated myosin from 10-20 week-old mutant hearts shows a 38% increase in Vmax of actin-activated ATP hydrolysis (ATPase) compared to wild-type

cellular
cardiac interstitial fibrosis ( J:32960 )
• moderate diffuse interstitial fibrosis by 30 weeks of age, starting as early as 15 weeks
• focal replacement granulation tissue at 30 weeks

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 14 DOID:0110320 OMIM:613251
 J:32960 , J:95600




Genotype
MGI:4837387
cx11
Allelic
Composition		 Myh6tm1Jse/Myh6+
Postntm1Jmol/Postntm1Jmol
Genetic
Background		 involves: 129S/SvEv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm1Jse mutation (2 available); any Myh6 mutation (206 available)
Postntm1Jmol mutation (1 available); any Postn mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
cardiac fibrosis ( J:165269 )
• cyclosporine A-treated mice exhibit reduced myocardial fibrosis than in similarly treated Myh6tm1Jse homozygotes
abnormal cardiovascular system physiology ( J:165269 )
• cyclosporine A-treated mice exhibit a 2.4-fold reduction in non-myocyte cell proliferation compared with similarly treated Myh6tm1Jse homozygotes but remains higher than in similarly treated wild-type mice

homeostasis/metabolism
decreased physiological sensitivity to xenobiotic ( J:165269 )
• cyclosporine A-treated mice exhibit a modest, but not significantly, reduction in maximal left ventricular wall thickness compared with similarly treated Myh6tm1Jse homozygotes
• cyclosporine A-treated mice exhibit reduced myocardial fibrosis than in similarly treated Myh6tm1Jse homozygotes
• cyclosporine A-treated mice exhibit a 2.4-fold reduction in non-myocyte cell proliferation compared with similarly treated Myh6tm1Jse homozygotes but remains higher than in similarly treated wild-type mice




Genotype
MGI:5907166
cx12
Allelic
Composition		 Myh6tm1Jse/Myh6+
Tg(Myh6-TNNI3*G203S)1Chs/0
Genetic
Background		 involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm1Jse mutation (2 available); any Myh6 mutation (206 available)
Tg(Myh6-TNNI3*G203S)1Chs mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:153302 )
• 100% mortality by 21 days of age, with survival declining rapidly from 16 days of age
• mean life span of males is 16.8 days, while the mean life span of females is 18.3 days

cardiovascular system
abnormal cardiac muscle tissue morphology ( J:153302 )
• abnormal myofiber alignment
abnormal myocardial fiber morphology ( J:153302 )
• altered alignment of myofibrils, myocyte atrophy and fragmentation, altered distribution of mitochondria between myofibrils, myofibril disarray and discontinuity, degeneration and loss of myocyte structure, collagen accumulation, greater infiltration of other cells, and enlarged extracellular spaces
increased myocardial fiber size ( J:153302 )
• cardiomyocyte hypertrophy
myocardial fiber degeneration ( J:153302 )
• degeneration and loss of cardiac myocyte structure
cardiac muscle necrosis ( J:153302 )
• areas of necrosis in left ventricular myocardium
increased heart weight ( J:153302 )
• increase in heart weight to body weight ratio at 14 and 16 days of age
dilated heart ( J:153302 )
• 4-chamber cardiac enlargement at 14 days of age
dilated heart atrium ( J:153302 )
• biatrial dilatation
dilated cardiomyopathy ( J:153302 )
• mice develop severe dilated cardiomyopathy, with enlargement of left ventricular cardiac chambers and a reduction in fractional shortening
decreased cardiac muscle contractility ( J:153302 )
• reduction in cardiac function at 16 to 18 days of age, with decreased fractional shortening which is reduced to below 20% in some mice
abnormal heart echocardiography feature ( J:153302 )
• increase in left ventricular end-diastolic and end-systolic diameter
prolonged RR interval ( J:153302 )
• at 14 days of age
irregular heartbeat ( J:153302 )
• adrenaline administration induces ventricular arrhythmias in some mice
atrioventricular block ( J:153302 )
• first degree atrioventricular block
prolonged PR interval ( J:153302 )
• at 14 days of age
abnormal P wave ( J:153302 )
• increase in P-wave height
prolonged QT interval ( J:153302 )
• the corrected QT interval is increased

immune system

liver/biliary system

homeostasis/metabolism
abnormal atrial thrombosis ( J:153302 )
• premorbid left atrial thrombus is seen in a subgroup of hearts

muscle
abnormal cardiac muscle tissue morphology ( J:153302 )
• abnormal myofiber alignment
abnormal myocardial fiber morphology ( J:153302 )
• altered alignment of myofibrils, myocyte atrophy and fragmentation, altered distribution of mitochondria between myofibrils, myofibril disarray and discontinuity, degeneration and loss of myocyte structure, collagen accumulation, greater infiltration of other cells, and enlarged extracellular spaces
increased myocardial fiber size ( J:153302 )
• cardiomyocyte hypertrophy
myocardial fiber degeneration ( J:153302 )
• degeneration and loss of cardiac myocyte structure
cardiac muscle necrosis ( J:153302 )
• areas of necrosis in left ventricular myocardium
dilated cardiomyopathy ( J:153302 )
• mice develop severe dilated cardiomyopathy, with enlargement of left ventricular cardiac chambers and a reduction in fractional shortening
decreased cardiac muscle contractility ( J:153302 )
• reduction in cardiac function at 16 to 18 days of age, with decreased fractional shortening which is reduced to below 20% in some mice

respiratory system
increased lung weight ( J:153302 )
• ratio of lung weight to body weight is increased

growth/size/body
increased heart weight ( J:153302 )
• increase in heart weight to body weight ratio at 14 and 16 days of age
increased lung weight ( J:153302 )
• ratio of lung weight to body weight is increased

cellular

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy DOID:11984 J:153302




Genotype
MGI:5897392
cx13
Allelic
Composition		 Myh6tm1Jse/Myh6+
Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol/0
Tg(Myh6-tTA)55Rbns/0
Genetic
Background		 involves: 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm1Jse mutation (2 available); any Myh6 mutation (206 available)
Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol mutation (1 available)
Tg(Myh6-tTA)55Rbns mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:234490 )
• improved compared with Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol mice

cardiovascular system
abnormal interventricular septum morphology ( J:234490 )
• improved compared with Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol mice
increased heart weight ( J:234490 )
• improved compared with Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol mice
increased heart left ventricle size ( J:234490 )
• improved compared with Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol mice
abnormal cardiac muscle contractility ( J:234490 )
• mice exhibit improved fractional shortening compared with Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol mice

muscle
abnormal cardiac muscle contractility ( J:234490 )
• mice exhibit improved fractional shortening compared with Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol mice

growth/size/body
increased heart weight ( J:234490 )
• improved compared with Tg(Myh6/tetO-Tnnc1*I61Q)1Jmol mice




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
06/12/2024
MGI 6.13 		The Jackson Laboratory