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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Hccstm1Tcc
targeted mutation 1, Timothy C Cox
MGI:3826866
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Hccstm1Tcc/Hccstm1Tcc
Nkx2-5tm2(cre)Rph/Nkx2-5+ 		involves: 129S1/Sv MGI:3826965
cn2
 		Hccstm1Tcc/Y
Nkx2-5tm2(cre)Rph/Nkx2-5+ 		involves: 129S1/Sv MGI:3826966
cn3
 		Hccstm1Tcc/Hccs+
Nkx2-5tm2(cre)Rph/Nkx2-5+ 		involves: 129S1/Sv MGI:3826967
cn4
 		Hccstm1Tcc/Hccs+
Nkx2-5tm2(cre)Rph/Nkx2-5+
Tg(CAG-EGFP)D4Nagy/0
Tg(Hmgcr-lacZ)H253Sest/0 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2 MGI:3826982


Genotype
MGI:3826965
cn1
Allelic
Composition		 Hccstm1Tcc/Hccstm1Tcc
Nkx2-5tm2(cre)Rph/Nkx2-5+
Genetic
Background		 involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hccstm1Tcc mutation (2 available); any Hccs mutation (4 available)
Nkx2-5tm2(cre)Rph mutation (1 available); any Nkx2-5 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, incomplete penetrance ( J:143285 )
• most die between E10.5 and E12.5 with few surviving to die by E14.5




Genotype
MGI:3826966
cn2
Allelic
Composition		 Hccstm1Tcc/Y
Nkx2-5tm2(cre)Rph/Nkx2-5+
Genetic
Background		 involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hccstm1Tcc mutation (2 available); any Hccs mutation (4 available)
Nkx2-5tm2(cre)Rph mutation (1 available); any Nkx2-5 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, incomplete penetrance ( J:143285 )
• most die between E10.5 and E12.5 with few surviving to die by E14.5

cardiovascular system
decreased cardiac muscle glycogen level ( J:143285 )
• at E13.5, glycogen storage in embryonic hearts is decreased compared to in wild-type mice
abnormal fetal cardiomyocyte morphology ( J:143285 )
• at E13.5, the degree of cardiomyocyte differentiation towards the ventricular lumen is lower than in wild-type mice
• at E13.5, cardiomyocytes have less mature sarcomeres with shorter, randomly arranged muscle fibrils unlike in wild-type mice
• however, mice exhibit normal cardiac morphology at E10.5 and E12.5
• at E13.5, cardiomyocytes accumulate a fine granular material unlike in wild-type cells
abnormal fetal cardiomyocyte mitochondrial morphology ( J:143285 )
• at E13.5, a subset of cardiomyocytes contain irregular mitochondria
decreased fetal cardiomyocyte proliferation ( J:143285 )
• at E11.5, proliferation of cardiomyocytes is decreased 45% compared to in wild-type mice

cellular
abnormal fetal cardiomyocyte mitochondrial morphology ( J:143285 )
• at E13.5, a subset of cardiomyocytes contain irregular mitochondria
decreased fetal cardiomyocyte proliferation ( J:143285 )
• at E11.5, proliferation of cardiomyocytes is decreased 45% compared to in wild-type mice
abnormal respiratory electron transport chain ( J:143285 )
• at E12.5 and E14.5, respiratory chain complex III activity in cardiomyocytes is 10% of normal

homeostasis/metabolism
decreased cardiac muscle glycogen level ( J:143285 )
• at E13.5, glycogen storage in embryonic hearts is decreased compared to in wild-type mice

muscle
decreased cardiac muscle glycogen level ( J:143285 )
• at E13.5, glycogen storage in embryonic hearts is decreased compared to in wild-type mice
abnormal fetal cardiomyocyte mitochondrial morphology ( J:143285 )
• at E13.5, a subset of cardiomyocytes contain irregular mitochondria
decreased fetal cardiomyocyte proliferation ( J:143285 )
• at E11.5, proliferation of cardiomyocytes is decreased 45% compared to in wild-type mice




Genotype
MGI:3826967
cn3
Allelic
Composition		 Hccstm1Tcc/Hccs+
Nkx2-5tm2(cre)Rph/Nkx2-5+
Genetic
Background		 involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hccstm1Tcc mutation (2 available); any Hccs mutation (4 available)
Nkx2-5tm2(cre)Rph mutation (1 available); any Nkx2-5 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:143285 )
• 13% of mice die between 9 and 15 months of age with varying degrees of dilated cardiomyopathy
• however, mice exhibit no embryonic lethality

cardiovascular system
abnormal myocardium layer morphology ( J:143285 )
• at 8 weeks, pale and granulated cells resembling degenerating cardiomyocytes are found in the ventricular myocardium unlike in wild-type mice
• at 1 year, severely affected mice exhibit hypertrophic cardiocyocytes
abnormal fetal cardiomyocyte mitochondrial morphology ( J:143285 )
• at E13.5, a subset of cardiomyocytes contain irregular mitochondria
• however, no other cardiac abnormalities are observed at E13.5
dilated heart atrium ( J:143285 )
• in severely affected mice at 1 year
enlarged heart ( J:143285 )
• in severely affected mice at 1 year
dilated heart left ventricle ( J:143285 )
• in severely affected mice at 1 year
thick ventricular wall ( J:143285 )
• in mice with hypertrophic cardiomyocytes at 1 year
dilated heart right ventricle ( J:143285 )
• in severely affected mice at 1 year
cardiac interstitial fibrosis ( J:143285 )
• at 1 year, mice with dilated cardiomyopathy exhibit increased interstitial fibrosis compared to mice that develop a hypertrophic cardiomyocyte-like phenotype
dilated cardiomyopathy ( J:143285 )
• in severely affected mice at 1 year
atrioventricular block ( J:143285 )
• at 1 year, 40% of mice exhibit pathologies of the cardiac conduction system including first degree atrioventricular (AV) block or intermittent second degree AV block type II
sinoatrial block ( J:143285 )
• at 1 year, 40% of mice exhibit pathologies of the cardiac conduction system including sinus bradycardia
bundle branch block ( J:143285 )
• at 1 year, 40% of mice exhibit pathologies of the cardiac conduction system including transient bundle branch block
abnormal myocardial fiber physiology ( J:143285 )
• respiratory chain complex III activity in cardiomyocytes is reduced 43% at E12.5 and 56% at E14.5 compared to in wild-type cells
• however, cardiomyocytes is reduced at 8 weeks is normal

cellular
abnormal fetal cardiomyocyte mitochondrial morphology ( J:143285 )
• at E13.5, a subset of cardiomyocytes contain irregular mitochondria
• however, no other cardiac abnormalities are observed at E13.5
cardiac interstitial fibrosis ( J:143285 )
• at 1 year, mice with dilated cardiomyopathy exhibit increased interstitial fibrosis compared to mice that develop a hypertrophic cardiomyocyte-like phenotype
abnormal respiratory electron transport chain ( J:143285 )
• respiratory chain complex III activity in cardiomyocytes is reduced 43% at E12.5 and 56% at E14.5 compared to in wild-type cells
• however, cardiomyocytes is reduced at 8 weeks is normal

homeostasis/metabolism
abnormal atrial thrombosis ( J:143285 )
• in severely affected mice at 1 year

muscle
abnormal myocardium layer morphology ( J:143285 )
• at 8 weeks, pale and granulated cells resembling degenerating cardiomyocytes are found in the ventricular myocardium unlike in wild-type mice
• at 1 year, severely affected mice exhibit hypertrophic cardiocyocytes
abnormal fetal cardiomyocyte mitochondrial morphology ( J:143285 )
• at E13.5, a subset of cardiomyocytes contain irregular mitochondria
• however, no other cardiac abnormalities are observed at E13.5
dilated cardiomyopathy ( J:143285 )
• in severely affected mice at 1 year

growth/size/body
enlarged heart ( J:143285 )
• in severely affected mice at 1 year




Genotype
MGI:3826982
cn4
Allelic
Composition		 Hccstm1Tcc/Hccs+
Nkx2-5tm2(cre)Rph/Nkx2-5+
Tg(CAG-EGFP)D4Nagy/0
Tg(Hmgcr-lacZ)H253Sest/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hccstm1Tcc mutation (2 available); any Hccs mutation (4 available)
Nkx2-5tm2(cre)Rph mutation (1 available); any Nkx2-5 mutation (21 available)
Tg(CAG-EGFP)D4Nagy mutation (2 available)
Tg(Hmgcr-lacZ)H253Sest mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal fetal cardiomyocyte morphology ( J:143285 )
• at E12.5, the relative volume of abnormal heart tissue begins to decline to 42% in ventricles and 47% in atria and is further reduced at E16.5 to 18% in ventricles and 19% in the atria then 10% in ventricles and 17% in the atria prior to birth
• at E12.5 and E13.5, cardiomyocytes appear small and round compared to wild-type cells
• however, the absolute volume of heart tissue before birth is unchanged
decreased fetal cardiomyocyte size ( J:143285 )
• cardiomyocytes appear smaller at E12.5 and E13.5
abnormal fetal cardiomyocyte proliferation ( J:143285 )
• while the number of affected cardiomyocytes decreases proliferation of normal cardiomyocytes increases in a compensatory manner

muscle
abnormal fetal cardiomyocyte proliferation ( J:143285 )
• while the number of affected cardiomyocytes decreases proliferation of normal cardiomyocytes increases in a compensatory manner

cellular
abnormal fetal cardiomyocyte proliferation ( J:143285 )
• while the number of affected cardiomyocytes decreases proliferation of normal cardiomyocytes increases in a compensatory manner




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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory