Phenotypes associated with this allele

• Allele Symbol: Dsg2^em1Spin
• Allele Name: endonuclease-mediated mutation 1, Volker Spindler
• Allele ID: MGI:7570178
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dsg2^em1Spin/Dsg2^em1Spin	involves: C57BL/6J	MGI:7571248
ht2	Dsg2^em1Spin/Dsg2^+	involves: C57BL/6J	MGI:7571249

Genotype
MGI:7571248

hm1

• Allelic Composition: Dsg2^em1Spin/Dsg2^em1Spin
• Genetic Background: involves: C57BL/6J

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

cardiovascular system

abnormal intercalated disk morphology ( J:342765 )

• increased ICD volume in heart owing to increased width between cells

abnormal cardiovascular development ( J:342765 )

• pale embryos with blood accumulation around heart at stage E12.5

cardiac hypertrophy ( J:342765 )

abnormal heart ventricle morphology ( J:342765 )

• deformed

• fibrotic and calcified areas in myocardium

• hypertrophic cardiomyocytes

abnormal heart left ventricle wall morphology ( J:342765 )

• fibrotic and calcified areas in myocardium

abnormal heart right ventricle wall morphology ( J:342765 )

• fibrotic and calcified areas in myocardium

hemopericardium ( J:342765 )

• in E12.5 embryos

cardiac fibrosis ( J:342765 )

decreased ventricle muscle contractility ( J:342765 )

• reduced tricuspid annular plane systolic excursion and fractional shortening

decreased left ventricle systolic pressure ( J:342765 )

• reduced fractional shortening

decreased right ventricle systolic pressure ( J:342765 )

• reduced tricuspid annular plane systolic excursion and fractional shortening

irregular heartbeat ( J:342765 )

• ventricular arrhythmia

ventricular premature beat ( J:342765 )

abnormal QRS complex ( J:342765 )

• increased QRS interval

decreased QRS amplitude ( J:342765 )

• decreased S peak amplitude

cellular

abnormal cell adhesion ( J:342765 )

• widened intercellular space in myocardium with some ruptured cell-cell junctions

decreased keratinocyte adhesion ( J:342765 )

growth/size/body

cardiac hypertrophy ( J:342765 )

homeostasis/metabolism

hemopericardium ( J:342765 )

• in E12.5 embryos

integument

decreased keratinocyte adhesion ( J:342765 )

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:342765 )

• most embryos die by stage E14

• mice born at a fraction of expected Mendelian ratio

muscle

abnormal intercalated disk morphology ( J:342765 )

• increased ICD volume in heart owing to increased width between cells

decreased ventricle muscle contractility ( J:342765 )

• reduced tricuspid annular plane systolic excursion and fractional shortening

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intrinsic cardiomyopathy		DOID:0060036		J:342765

Genotype
MGI:7571249

ht2

• Allelic Composition: Dsg2^em1Spin/Dsg2⁺
• Genetic Background: involves: C57BL/6J

cardiovascular system

abnormal intercalated disk morphology ( J:342765 )

• increased ICD volume in heart owing to increased width between cells

abnormal heart right ventricle wall morphology ( J:342765 )

• fibrotic and calcified areas in myocardium

cardiac fibrosis ( J:342765 )

decreased right ventricle systolic pressure ( J:342765 )

• reduced fractional shortening

irregular heartbeat ( J:342765 )

• right ventricular arrhythmia

ventricular premature beat ( J:342765 )

♂

abnormal QRS complex ( J:342765 )

• increased QRS interval

decreased QRS amplitude ( J:342765 )

• decreased S peak amplitude

cellular

decreased keratinocyte adhesion ( J:342765 )

integument

decreased keratinocyte adhesion ( J:342765 )

muscle

abnormal intercalated disk morphology ( J:342765 )

• increased ICD volume in heart owing to increased width between cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arrhythmogenic right ventricular cardiomyopathy		DOID:0050431	OMIM:PS107970	J:342765