Phenotypes associated with this allele

• Allele Symbol: Klf3^m1Cmhd
• Allele Name: mutation 1, Centre for Modeling Human Disease
• Allele ID: MGI:5567987
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Klf3^m1Cmhd/Klf3^m1Cmhd	involves: C3H/HeJ * C57BL/6J	MGI:5568080
ht2	Klf3^m1Cmhd/Klf3^+	involves: BALB/cJ * C3H/HeJ * C57BL/6J	MGI:5568081
ht3	Klf3^m1Cmhd/Klf3^+	involves: C3H/HeJ * C57BL/6J	MGI:5568079

Genotype
MGI:5568080

hm1

• Allelic Composition: Klf3^m1Cmhd/Klf3^m1Cmhd
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

Abnormal cardiac histology in Klf3^m1Cmhd/Klf3^m1Cmhd and Klf3^m1Cmhd/Klf3⁺ embryos

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:206507 )

• E14.5 to E16.5

cardiovascular system

abnormal ventricle myocardium morphology ( J:206507 )

• thinned and disorganized at E12.5 and E14.5

atrial septal defect ( J:206507 )

abnormal interventricular septum morphology ( J:206507 )

• thinned and disorganized at E12.5 and E14.5

ventricular septal defect ( J:206507 )

muscle

abnormal ventricle myocardium morphology ( J:206507 )

• thinned and disorganized at E12.5 and E14.5

Genotype
MGI:5568081

ht2

• Allelic Composition: Klf3^m1Cmhd/Klf3⁺
• Genetic Background: involves: BALB/cJ * C3H/HeJ * C57BL/6J

cardiovascular system

abnormal blood flow velocity ( J:206507 )

• increased aortic blood velocity in 17 of 165 mice

• Background Sensitivity: more prevalent in mice on a higher C57BL/6 compared with mice on a background containing BALB/cJ

Genotype
MGI:5568079

ht3

• Allelic Composition: Klf3^m1Cmhd/Klf3⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J

Aortic valvular stenosis in Klf3^m1Cmhd/Klf3⁺ mice

mortality/aging

premature death ( J:206507 )

• some mice die before 60 weeks likely due to heart failure

lethality throughout fetal growth and development, incomplete penetrance ( J:206507 )

• some mice die in utero

neonatal lethality, incomplete penetrance ( J:206507 )

• some neonates breath occasionally for 30 minutes then stop breathing and die

cardiovascular system

cardiovascular system phenotype ( J:206507 )

N • surviving adult mice exhibit normal peripheral vasculature

abnormal ascending aorta morphology ( J:206507 )

• post-stenotic enlargement of the diastolic diameter of the ascending aorta

abnormal ventricle myocardium morphology ( J:206507 )

• disorganized and thickened septal myocardium at E14.5

increased atrioventricular cushion size ( J:206507 )

• that may obstruct flow

abnormal heart left atrium morphology ( J:206507 )

• increased left atrial area

increased heart left atrium size ( J:206507 )

• in surviving adult mice

abnormal heart right atrium morphology ( J:206507 )

• increased right atrial area

increased heart right atrium size ( J:206507 )

• in surviving adult mice

atrial septal defect ( J:206507 )

• in some mice

increased heart weight ( J:206507 )

• increased relative weight in surviving adult mice

• in mice that die prematurely

cardiac hypertrophy ( J:206507 )

• ventricular hypertrophy in mice that die neonatally

• in mice that die prematurely

• eccentric hypertrophy in surviving mice

abnormal heart left ventricle morphology ( J:206507 )

• increased diastolic volume in surviving adult mice

abnormal aortic valve cusp morphology ( J:206507 )

• blebs or small hematomas in the aortic valve leaflets

• however, no aortic valve regurgitation is observed

bicuspid aortic valve ( J:206507 )

• occasional

thick aortic valve cusps ( J:206507 )

• in adult mice

• in mice that die neonatally

aortic valve stenosis ( J:206507 )

• partially fused leaflets

abnormal blood flow velocity ( J:206507 )

• high aortic blood velocity in 6 of 7 mice at 8 weeks

• increased aortic blood velocity in 136 of 584 mice

• increased peak blood velocity in the main pulmonary artery and at the atrioventricular valves during early venctricular filling (E-wave)

• E-wave fusion with the arterial filling wave (A-wave) occur significantly more often in the left or right filling waveforms

• surviving adult mice exhibit improved diastolic filling with an increase in early filling (E-wave) velocity for left and right atrioventricular filling

• Background Sensitivity: more prevalent in mice on a higher C57BL/6 compared with mice on a background containing BALB/cJ

• however, peak inflow velocities during atrial contraction or in heart rate

hypervolemia ( J:206507 )

• in surviving adult mice

increased cardiac output ( J:206507 )

• doubled in surviving adult mice

hematoma ( J:206507 )

• blebs or small hematomas in the aortic valve leaflets

abnormal blood pressure regulation ( J:206507 )

• reduced aortic systolic and diastolic blood pressure

• however, ventricular systolic blood pressure is normal

increased cardiac muscle contractility ( J:206507 )

• in surviving adult mice

decreased systemic arterial blood pressure ( J:206507 )

• surviving adult mice

decreased mean systemic arterial blood pressure ( J:206507 )

hypotension ( J:206507 )

• arterial in surviving adult mice

congestive heart failure ( J:206507 )

• some mice die before 60 weeks likely due to heart failure

hematopoietic system

increased spleen weight ( J:206507 )

• increased relative weight in surviving adult mice

anemia ( J:206507 )

• slightly in surviving adult mice

decreased erythrocyte cell number ( J:206507 )

• in surviving adult mice

decreased hemoglobin content ( J:206507 )

• in surviving adult mice

reticulocytosis ( J:206507 )

growth/size/body

increased heart weight ( J:206507 )

• increased relative weight in surviving adult mice

• in mice that die prematurely

cardiac hypertrophy ( J:206507 )

• ventricular hypertrophy in mice that die neonatally

• in mice that die prematurely

• eccentric hypertrophy in surviving mice

decreased body weight ( J:206507 )

• in surviving adult mice at 10 to 11 weeks

increased kidney weight ( J:206507 )

• increased relative weight in surviving adult mice

increased spleen weight ( J:206507 )

• increased relative weight in surviving adult mice

homeostasis/metabolism

increased oxygen consumption ( J:206507 )

• in surviving adult mice

muscle

abnormal ventricle myocardium morphology ( J:206507 )

• disorganized and thickened septal myocardium at E14.5

increased cardiac muscle contractility ( J:206507 )

• in surviving adult mice

adipose tissue

decreased abdominal fat pad weight ( J:206507 )

• in surviving adult mice at 18 to 25 weeks

decreased percent body fat/body weight ( J:206507 )

• in young adult mice

immune system

increased spleen weight ( J:206507 )

• increased relative weight in surviving adult mice

nervous system

increased brain weight ( J:206507 )

• increased relative weight in surviving adult mice

renal/urinary system

increased kidney weight ( J:206507 )

• increased relative weight in surviving adult mice