Phenotypes associated with this allele

• Allele Symbol: Ackr3^tm1.1Fma
• Allele Name: targeted mutation 1.1, Fabienne Mackay
• Allele ID: MGI:3778916
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ackr3^tm1.1Fma/Ackr3^tm1.1Fma	involves: BALB/cJ * C57BL/6	MGI:3723117
ht2	Ackr3^tm1.1Fma/Ackr3^+	involves: BALB/cJ * C57BL/6	MGI:3723118

Genotype
MGI:3723117

hm1

• Allelic Composition: Ackr3^tm1.1Fma/Ackr3^tm1.1Fma
• Genetic Background: involves: BALB/cJ * C57BL/6

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

Ackr3^tm1.1Fma/Ackr3^tm1.1Fma mice exhibit heart valve abnormalities

mortality/aging

premature death ( J:124878 )

• one of five surviving mice died with aortic valve calcification

neonatal lethality, incomplete penetrance ( J:124878 )

• greater than 95% of mice die within 24 hours of birth

cardiovascular system

abnormal cardiac outflow tract development ( J:124878 )

• outflow tract defects arise at E17.5

abnormal atrioventricular cushion morphology ( J:124878 )

• atrioventricular cushion defects arise at E17.5

• however, prior to E17.5 no cardiac defects are detected and tricuspid and mitral valves are normal at all stages examined

overriding aortic valve ( J:124878 )

• 30% of neonates have an overriding aorta that is often associated with ventricular septum defects

atrial septal defect ( J:124878 )

• 66% of neonates exhibit atrial septal defects

ventricular septal defect ( J:124878 )

• 50% of neonates have defects in the submembranous ventricular septum associated with overriding aorta in some cases

abnormal aortic valve cusp morphology ( J:124878 )

• 25% of neonates exhibit aortic valve tricuspids with thick leaflets

• 25% of neonates exhibit aortic valve bicuspids with thick leaflets

• 20% of neonates have an aortic valve bicuspid or unicuspid with an overgrown and obstructed leaflet

• in 2 surviving mice the aortic valve leaflets are thickened and in one fused with clear evidence of chondrification

bicuspid aortic valve ( J:124878 )

• 25% of neonates exhibit aortic valve bicuspids with thick leaflets

• 20% of neonates have an aortic valve bicuspid or unicuspid with an overgrown and obstructed leaflet

thick aortic valve cusps ( J:124878 )

• 25% of neonates exhibit aortic valve tricuspids with thick leaflets

• 25% of neonates exhibit aortic valve bicuspids with thick leaflets

• in 2 surviving mice the aortic valve leaflets are thickened

unicuspid aortic valve ( J:124878 )

• some neonates have an aortic valve unicuspid with an overgrown and obstructed leaflet

calcified aortic valve ( J:124878 )

• one of five surviving mice died with aortic valve calcification

abnormal pulmonary valve cusp morphology ( J:124878 )

• 77% of neonates exhibit pulmonary valve tricuspids with thick leaflets

• 9% of neonates exhibit pulmonary valve bicuspids with thick leaflets

• 5% of neonates have a pulmonary valve bicuspid or unicuspid with an overgrown and obstructed leaflet

bicuspid pulmonary valve ( J:124878 )

• 9% of neonates exhibit pulmonary valve bicuspids with thick leaflets

• 5% of neonates have a pulmonary valve bicuspid or unicuspid with an overgrown and obstructed leaflet

thick pulmonary valve cusps ( J:124878 )

• 77% of neonates exhibit pulmonary valve tricuspids with thick leaflets

• 9% of neonates exhibit pulmonary valve bicuspids with thick leaflets

unicuspid pulmonary valve ( J:124878 )

• some neonates have a pulmonary valve unicuspid with an overgrown and obstructed leaflet

dilated heart right ventricle ( J:124878 )

• 80% of neonates have dilated right ventricles

immune system

decreased marginal zone B cell number ( J:124878 )

• two surviving mice had modest reductions in marginal zone B cells that localized correctly to the spleen

• however, B cells and granulocytes in the fetal liver and bone marrow are normal unlike in Cxcl12 or Cxcr4 null mice

digestive/alimentary system

digestive/alimentary phenotype ( J:124878 )

N • unlike in Cxcl12 null mice, gastrointestinal vascularization is normal

nervous system

nervous system phenotype ( J:124878 )

N • unlike in Cxcl12 and Cxcr4 null mice, neural development is normal

hematopoietic system

decreased marginal zone B cell number ( J:124878 )

• two surviving mice had modest reductions in marginal zone B cells that localized correctly to the spleen

• however, B cells and granulocytes in the fetal liver and bone marrow are normal unlike in Cxcl12 or Cxcr4 null mice

Genotype
MGI:3723118

ht2

• Allelic Composition: Ackr3^tm1.1Fma/Ackr3⁺
• Genetic Background: involves: BALB/cJ * C57BL/6

cardiovascular system

abnormal aortic valve cusp morphology ( J:124878 )

• 10% of mice exhibit aortic valve leaflets that are thickened and/or fused with clear evidence of chondrification

thick aortic valve cusps ( J:124878 )