Phenotypes associated with this allele

• Allele Symbol: Egr2^tm3Pch
• Allele Name: targeted mutation 3, Patrick Charnay
• Allele ID: MGI:2183227
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Egr2^tm1Pch/Egr2^tm3Pch	involves: 129S2/SvPas * C57BL/6 * DBA/2	MGI:2183230
cn2	Egr2^tm3Pch/Egr2^tm3Pch Tg(Tek-cre)1Ywa/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5762545

Genotype
MGI:2183230

ht1

• Allelic Composition: Egr2^tm1Pch/Egr2^tm3Pch
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

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

nervous system

decreased rhombomere 3 size ( J:75128 )

• reduced size of r3

• normal r5

embryo

decreased rhombomere 3 size ( J:75128 )

• reduced size of r3

• normal r5

Genotype
MGI:5762545

cn2

• Allelic Composition: Egr2^tm3Pch/Egr2^tm3Pch; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

cardiovascular system

aorta stenosis ( J:230306 )

thick pulmonary valve cusps ( J:230306 )

• increase in thickness of pulmonary valve leaflets at E18.5

• however, no obvious anomalies in the atrioventricular valves, mitral or tricuspid valves

abnormal heart left ventricle morphology ( J:230306 )

• mice with accelerated aortic velocity show an increase in left ventricular mass

heart left ventricle hypertrophy ( J:230306 )

• first signs of left ventricular concentric hypertrophy are seen at 3 months of age

abnormal aortic valve cusp morphology ( J:230306 )

• relative surface of the aortic valve is increased

• the number of interstitial cells of the aortic valve is increased on average of 1.97 times

• increase in the intercellular space throughout the leaflets compared with controls

• the extracellular matrix layers of the aortic valve are expanded

• disorganization of the extracellular matrix, with a decrease of collagen deposition, increased proteoglycan deposition, and dispersion of elastin fibers in the distal thickened region of the aortic valve leaflets

thick aortic valve cusps ( J:230306 )

• dysmorphic and enlarged aortic valve leaflets, with thickening restricted to the distal tip of the leaflets

abnormal cardiovascular system physiology ( J:230306 )

• 4 of 11 mice exhibit acceleration of aortic velocity suggesting an increase in aortic stroke volume and/or an obstruction across the aortic valve caused by thickened leaflets

aortic valve regurgitation ( J:230306 )

• aorta shows flow reversal in 100% of 3 month old mice

muscle

heart left ventricle hypertrophy ( J:230306 )

• first signs of left ventricular concentric hypertrophy are seen at 3 months of age

growth/size/body

heart left ventricle hypertrophy ( J:230306 )

• first signs of left ventricular concentric hypertrophy are seen at 3 months of age