Phenotypes associated with this allele

• Allele Symbol: Dsp^em1Melr
• Allele Name: endonuclease-mediated mutation 1, Mona El Refaey
• Allele ID: MGI:7464254
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dsp^em1Melr/Dsp^em1Melr	C57BL/6-Dsp^em1Melr	MGI:7464259
ht2	Dsp^em1Melr/Dsp^+	C57BL/6-Dsp^em1Melr	MGI:7464263

Genotype
MGI:7464259

hm1

• Allelic Composition: Dsp^em1Melr/Dsp^em1Melr
• Genetic Background: C57BL/6-Dsp^em1Melr

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:330171 )

• embryos die by stage E10

Genotype
MGI:7464263

ht2

• Allelic Composition: Dsp^em1Melr/Dsp⁺
• Genetic Background: C57BL/6-Dsp^em1Melr

cardiovascular system

cardiovascular system phenotype ( J:330171 )

N • normal heart morphology and heart-weight-to-tibia-length ratio

N • normal fractional shortening (FS) and systolic and diastolic left ventricular internal diameter (LVID)

N • no increased fibro-fatty infiltration in heart

N • no spontaneous arrhythmias

increased response of heart to induced stress ( J:330171 )

• reduced fractional shortening (FS), reduced ejection fraction (EF) and increased diastolic left ventricular internal diameter (LVID) after transverse aortic constriction (TAC)-induced pressure overload

• prolonged QTc interval after transverse aortic constriction (TAC)-induced pressure overload

• T-wave inversion and fragmented pattern in QRS (fQRS) after transverse aortic constriction (TAC)-induced pressure overload

• more severe and prolonged arrhythmogenic events (ventricular tachycardia (VT), bigeminy, atrioventricular (AV) block) after epinephrine administration

• normal survival and heart-weight-to-tibia-length ratio after transverse aortic constriction (TAC)-induced pressure overload

homeostasis/metabolism

increased response of heart to induced stress ( J:330171 )

• reduced fractional shortening (FS), reduced ejection fraction (EF) and increased diastolic left ventricular internal diameter (LVID) after transverse aortic constriction (TAC)-induced pressure overload

• prolonged QTc interval after transverse aortic constriction (TAC)-induced pressure overload

• T-wave inversion and fragmented pattern in QRS (fQRS) after transverse aortic constriction (TAC)-induced pressure overload

• more severe and prolonged arrhythmogenic events (ventricular tachycardia (VT), bigeminy, atrioventricular (AV) block) after epinephrine administration

• normal survival and heart-weight-to-tibia-length ratio after transverse aortic constriction (TAC)-induced pressure overload