About   Help   FAQ
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




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory