Phenotypes associated with this allele

• Allele Symbol: Acta2^tm1Rjs
• Allele Name: targeted mutation 1, Robert J Schwartz
• Allele ID: MGI:3665248
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Acta2^tm1Rjs/Acta2^tm1Rjs	involves: 129S7/SvEvBrd * C57	MGI:3691142
hm2	Acta2^tm1Rjs/Acta2^tm1Rjs	involves: 129S7/SvEvBrd * C57BL/6	MGI:3691143

Genotype
MGI:3691142

hm1

• Allelic Composition: Acta2^tm1Rjs/Acta2^tm1Rjs
• Genetic Background: involves: 129S7/SvEvBrd * C57

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

cardiovascular system

abnormal aorta morphology ( J:113261 )

• there is disorganization and reduction of myofilamentous arrays in mutants

abnormal aorta elastic tissue morphology ( J:113261 )

• elastic layers in mutant aorta appear unruffled and flat

abnormal blood flow velocity ( J:113261 )

• increase in body temperature of 2.5 degrees in wild-type results in 5-fold increase in flow velocity, measured in tail artery vs <2-fold increase in mutants

abnormal systemic arterial blood pressure ( J:113261 )

• sodium nitroprusside (SNP) infusion induces reduced vasodilatation and a 26% decrease in systolic blood pressure compared to ~50% increase in heart rate and ~45% decrease in blood pressure seen in wild-type mice; when SNP treatment is stopped, blood pressure remains low for ~1 hour while in wild-type, it rapidly returns to pre-SNP levels

decreased systemic arterial systolic blood pressure ( J:113261 )

• in adult conscious mice, blood pressure is lower than in controls (decrease of ~28%)

decreased vasoconstriction ( J:113261 )

• in vitro, aortic segments from mutants do not respond to KCl stimulation

muscle

decreased vasoconstriction ( J:113261 )

• in vitro, aortic segments from mutants do not respond to KCl stimulation

Genotype
MGI:3691143

hm2

• Allelic Composition: Acta2^tm1Rjs/Acta2^tm1Rjs
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

vision/eye

abnormal cone electrophysiology ( J:111893 )

• at P22, a 45% reduction in photopic ERG b-wave in mutants

• a significant difference in photopic a-wave measurements from P45 to P75 is observed

abnormal rod electrophysiology ( J:111893 )

• at P22, there is a 25% reduction in scotopic ERG a-wave and b-wave compared to wild-type

cardiovascular system

increased vascular permeability ( J:111893 )

• at postnatal day 50 and 75, vascular permeability is significantly increased (1.6-fold) in mutants