All Phenotypes Tg(myl7.L-cre)1118Tmhn MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Prdm16^tm1.1Brsp/Prdm16^tm1.1Brsp Tg(myl7.L-cre)1118Tmhn/0	involves: 129 * C57BL/6J * MF1	MGI:7314277
cn2	Tafazzin^em1Xfa/Tafazzin^em1Xfa Tg(myl7.L-cre)1118Tmhn/0	involves: C57BL/6NCrl * MF1	MGI:7520366
cn3	Tafazzin^em1Xfa/Y Tg(myl7.L-cre)1118Tmhn/0	involves: C57BL/6NCrl * MF1	MGI:7520358
cn4	Nexn^tm1Chen/Nexn^tm1Chen Tg(myl7.L-cre)1118Tmhn/0	involves: MF1	MGI:6514899

Allelic Composition	Prdm16^tm1.1Brsp/Prdm16^tm1.1Brsp Tg(myl7.L-cre)1118Tmhn/0
Genetic Background	involves: 129 * C57BL/6J * MF1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prdm16^tm1.1Brsp mutation (1 available); any Prdm16 mutation (73 available)
Tg(myl7.L-cre)1118Tmhn mutation (2 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:326525 )

• mice exhibit progressive cardiac dysfunction leading to death before P7

cardiovascular system

thin left ventricle myocardium compact layer ( J:326525 )

• thinner left ventricle compact myocardium starting from E15.5

• however, thickness of right ventricle compact myocardium is normal

abnormal heart development ( J:326525 )

• mice develop biventricular noncompaction

abnormal heart apex morphology ( J:326525 )

• mice exhibit clefts at the apices of the hearts as early as E15.5

thin interventricular septum ( J:326525 )

• thinner interventricular septum starting from E15.5

• however, thickness of right ventricle compact myocardium is not different

increased heart left ventricle size ( J:326525 )

• enlarged left ventricle is seen as early as E15.5

dilated heart left ventricle ( J:326525 )

abnormal cardiovascular system physiology ( J:326525 )

• mice exhibit progressive cardiac dysfunction

decreased cardiac muscle contractility ( J:326525 )

• severe cardiac contractile dysfunction in P0 to P3 neonates

decreased fetal cardiomyocyte proliferation ( J:326525 )

• reduction in proliferating cardiomyocytes in left ventricle compact myocardium and interventricular septum at both E13.5 and E15.5

• however, no differences in cardiomyocyte apoptosis are seen

abnormal heart echocardiography feature ( J:326525 )

• echocardiography shows severe cardiac contractile dysfunction in P0 to P3 neonates, increased left ventricle chamber size, and thinned interventricular septum

cardiomyopathy ( J:326525 )

• left ventricular noncompaction cardiomyopathy

muscle

thin left ventricle myocardium compact layer ( J:326525 )

• thinner left ventricle compact myocardium starting from E15.5

• however, thickness of right ventricle compact myocardium is normal

decreased cardiac muscle contractility ( J:326525 )

• severe cardiac contractile dysfunction in P0 to P3 neonates

decreased fetal cardiomyocyte proliferation ( J:326525 )

• reduction in proliferating cardiomyocytes in left ventricle compact myocardium and interventricular septum at both E13.5 and E15.5

• however, no differences in cardiomyocyte apoptosis are seen

cardiomyopathy ( J:326525 )

• left ventricular noncompaction cardiomyopathy

cellular

decreased fetal cardiomyocyte proliferation ( J:326525 )

• reduction in proliferating cardiomyocytes in left ventricle compact myocardium and interventricular septum at both E13.5 and E15.5

• however, no differences in cardiomyocyte apoptosis are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
left ventricular noncompaction		DOID:0060480	OMIM:604169	J:326525

Allelic Composition	Tafazzin^em1Xfa/Tafazzin^em1Xfa Tg(myl7.L-cre)1118Tmhn/0
Genetic Background	involves: C57BL/6NCrl * MF1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tafazzin^em1Xfa mutation (0 available); any Tafazzin mutation (4 available)
Tg(myl7.L-cre)1118Tmhn mutation (2 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cardiovascular system

dilated cardiomyopathy ( J:339058 )

• mice show dilated cardiomyopathy phenotypes similar to mutant males with the majority of mice developing dilated cardiomyopathy at 4 months of age, with increased end-diastolic left ventricle internal diameter and end-systolic left ventricle internal diameter

decreased heart left ventricle muscle contractility ( J:339058 )

• mice show reduced left ventricle fractional shortening at 4 months of age

abnormal heart echocardiography feature ( J:339058 )

• echocardiography shows decreased left ventricle systolic function, with reduced left ventricle fractional shortening, increased end-diastolic left ventricle internal diameter, and end-systolic left ventricle internal diameter

muscle

dilated cardiomyopathy ( J:339058 )

decreased heart left ventricle muscle contractility ( J:339058 )

• mice show reduced left ventricle fractional shortening at 4 months of age

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

decreased survivor rate ( J:339058 )

• mice are born at expected Mendelian ratios with 77% surviving beyond 50 weeks of age

premature death ( J:339058 )

• 33% of mice die before 50 weeks of age and fewer than 5% show lethality between 1 week and 2 months of age with enlarged hearts

cardiovascular system

abnormal heart morphology ( J:339058 )

• hearts show an elevated number of abnormal mitochondria, including variable size, donut and onion-shaped mitochondria, and mitochondria with disorganized cristae

• mitochondrial size in the heart is reduced 50% and lengths are slightly increased, indicating elongated mitochondria

• hearts show a significant number of mitochondria devoid of normal cristae structures but with an increased inner membrane surface, forming large internal membrane stacks that fail to invaginate into tubular or fenestrated laminar cristae

globular heart ( J:339058 )

• at 4 months of age, hearts of surviving mice show a more rounded shape compared to controls

enlarged heart ( J:339058 )

• enlarged hearts are seen in the mice that show lethality between 1 week and 2 months of age

abnormal heart left ventricle morphology ( J:339058 )

• width of ventricles is enlarged resulting in a decreased height/width ratio at 4 months of age

• however, no differences in ventricular weight to body weight or ventricular weight to tibia length ratios are seen at 2 or 4 months of age

dilated heart left ventricle ( J:339058 )

• mice show dilated left ventricular chambers at 4 months of age, however no overtly enlarged hearts are seen at 4 months

• however, no differences in right ventricular chambers are seen

dilated cardiomyopathy ( J:339058 )

• majority of mice develop dilated cardiomyopathy at 4 months of age, with increased end-diastolic left ventricle internal diameter and end-systolic left ventricle internal diameter

• however, no arrhythmias are detected in mice at 2 weeks, 2 months, or 6 months of age and no increase in cardiac fibrosis or cardiomyocyte death is seen

decreased heart left ventricle muscle contractility ( J:339058 )

• mice show reduced left ventricle fractional shortening at 4 and 6 months of age

abnormal heart echocardiography feature ( J:339058 )

growth/size/body

enlarged heart ( J:339058 )

• enlarged hearts are seen in the mice that show lethality between 1 week and 2 months of age

homeostasis/metabolism

abnormal phospholipid level ( J:339058 )

• approximate 50% reduction in total cardiolipin levels in hearts at 2 and 4 months of age while levels of monolysocardiolipin and the further degradation product dilysocardiolipin are elevated resulting in monolysocardiolipin/cardiolipin ratios that are increased about 50-fold

• hearts shows an accumulation of cardiolipins with shorter or more saturated acyl groups and reduced levels of mature cardiolipin species with longer and more unsaturated acyl groups, including the most predominant form tetralinoleoyl-cardiolipin (72:8)

• levels of total phosphatidic acid and phosphatidylglycerol are increased in ventricular tissues

• accumulation of phosphatidylcholine and phosphatidylethanolamine species likely containing linoleic acid, such as phosphatidylcholine (36:2; likely phosphatidylcholine [18:0/18:2]) and phosphatidylethanolamine (36:2; likely phosphatidylethanol-amine [18:0/18:2]) in ventricular tissue

cellular

disorganized mitochondrial cristae ( J:339058 )

• hearts show mitochondria with disorganized cristae

abnormal mitochondrial shape ( J:339058 )

• hearts show an elevated number of abnormal mitochondria, including donut and onion-shaped mitochondria, and mitochondria with disorganized cristae

decreased mitochondrial size ( J:339058 )

• heart mitochondrial size is reduced 50% and lengths are slightly increased, indicating elongated mitochondria

increased mitochondrial number ( J:339058 )

• mitochondrial number is increased in myocardium

abnormal cellular respiration ( J:339058 )

• mitochondrial respiration capacity is decreased in the heart, with heart mitochondria showing reduced state 3 and maximal respiratory rates for complex I substrates pyruvate/malate and palmitoyl carnitine/mmalate and complex II substrates succinate/rotenone

• however, enzymatic activities of each individual complex are not altered and no differences in lactate production is seen in hearts

abnormal mitochondrial physiology ( J:339058 )

• levels of reactive oxygen species (ROS) and superoxide are elevated in mitochondria from 2-month-old hearts

• however, no difference in mitochondrial membrane potential is seen indicating that the elevated levels of ROS and superoxide are due to reduced respiration capacity

abnormal respiratory electron transport chain ( J:339058 )

• organization of high molecular weight respiratory chain super complexes is impaired in heart mitochondria; higher-order assemblies of complex I-containing and complex III-containing respiratory chain supercomplexes (RCS) are diminished in heart mitochondria while lower molecular weight oligomers of RCS containing complexes I and III2 and individual complexes I and III are increased

• complex IV-containing RCS are reduced and individual complex IV is increased

muscle

dilated cardiomyopathy ( J:339058 )

• majority of mice develop dilated cardiomyopathy at 4 months of age, with increased end-diastolic left ventricle internal diameter and end-systolic left ventricle internal diameter

• however, no arrhythmias are detected in mice at 2 weeks, 2 months, or 6 months of age and no increase in cardiac fibrosis or cardiomyocyte death is seen

decreased heart left ventricle muscle contractility ( J:339058 )

• mice show reduced left ventricle fractional shortening at 4 and 6 months of age

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
Barth syndrome	DOID:0050476	OMIM:302060	J:339058
cardiomyopathy	DOID:0050700		J:339058

Allelic Composition	Nexn^tm1Chen/Nexn^tm1Chen Tg(myl7.L-cre)1118Tmhn/0
Genetic Background	involves: MF1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nexn^tm1Chen mutation (0 available); any Nexn mutation (28 available)
Tg(myl7.L-cre)1118Tmhn mutation (2 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:290931 )

• all mice die before P12

growth/size/body

increased heart weight ( J:290931 )

• heart weight to body weight and heart weight to tibial length ratios are increased starting at P5

decreased body size ( J:290931 )

decreased body weight ( J:290931 )

cardiovascular system

abnormal myocardial fiber morphology ( J:290931 )

• cardiomyocytes from P5 mice do not show membrane invaginations typical of initial T-tubule formation and organized T-tubules are completely absent at P10

• in E18.5 cardiomyocytes, the 12 nm peripheral junctions are decreased, while the 30 nm junctions are increased, indicating impaired associations between the sarcoplasmic reticulum and sarcolemma

• however, cardiomyocytes show no alteration of sarcomeres or Z-disc structure

increased heart weight ( J:290931 )

• heart weight to body weight and heart weight to tibial length ratios are increased starting at P5

dilated cardiomyopathy ( J:290931 )

• mice develop progressive dilated cardiomyopathy

abnormal heart echocardiography feature ( J:290931 )

• echocardiography shows altered cardiac function, with decreased percent fractional shortening seen at P1, P5 and P10, and increased left ventricular diameter at end-diastole and end-systole at P5 and P10

abnormal myocardial fiber physiology ( J:290931 )

• cardiomyocytes isolated at E18.5 exhibit reduced amplitude of calcium transients and slower decay of the calcium transient (Tau)

homeostasis/metabolism

abnormal ventricular thrombosis ( J:290931 )

• hearts show organized thrombus in the left ventricle of the heart

muscle

abnormal myocardial fiber morphology ( J:290931 )

• cardiomyocytes from P5 mice do not show membrane invaginations typical of initial T-tubule formation and organized T-tubules are completely absent at P10

• in E18.5 cardiomyocytes, the 12 nm peripheral junctions are decreased, while the 30 nm junctions are increased, indicating impaired associations between the sarcoplasmic reticulum and sarcolemma

• however, cardiomyocytes show no alteration of sarcomeres or Z-disc structure

dilated cardiomyopathy ( J:290931 )

• mice develop progressive dilated cardiomyopathy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1CC		DOID:0110424	OMIM:613122	J:290931

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