All Phenotypes Hccs<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Hccs^tm1Tcc/Hccs⁺ Nkx2-5^tm2(cre)Rph/Nkx2-5⁺	involves: 129S1/Sv	MGI:3826967
cn2	Hccs^tm1Tcc/Hccs⁺ Nkx2-5^tm2(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
cn3	Arhgap6/Hccs/Mid1^tm1Hzo/Hccs⁺ Tg(EIIa-cre)C5379Lmgd/?	involves: 129S7/SvEvBrd * C57BL/6 * FVB/N	MGI:3580092

♀	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

Allelic Composition	Hccs^tm1Tcc/Hccs⁺ Nkx2-5^tm2(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:
Hccs^tm1Tcc mutation (2 available); any Hccs mutation (4 available)
Nkx2-5^tm2(cre)Rph mutation (2 available); any Nkx2-5 mutation (22 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

Allelic Composition	Arhgap6/Hccs/Mid1^tm1Hzo/Hccs⁺ Tg(EIIa-cre)C5379Lmgd/?
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arhgap6/Hccs/Mid1^tm1Hzo mutation (0 available); any Hccs mutation (4 available)
Tg(EIIa-cre)C5379Lmgd mutation (5 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:80528 )

• no heterozygotes born

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microphthalmia		DOID:10629		J:80528

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 03/18/2025 MGI 6.24