Phenotypes associated with this allele

• Allele Symbol: Btc^tm1Dcl
• Allele Name: targeted mutation 1, David C Lee
• Allele ID: MGI:2665044
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Btc^tm1Dcl/Btc^tm1Dcl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3622112
cx2	Btc^tm1Dcl/Btc^tm1Dcl Hbegf^tm1Dcl/Hbegf^tm1Dcl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3622110

Genotype
MGI:3622112

hm1

• Allelic Composition: Btc^tm1Dcl/Btc^tm1Dcl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

normal phenotype

no abnormal phenotype detected ( J:83820 )

• homozygotes are viable, fertile and healthy with no significant differences in pancreas or cardiac valve morphology and a normal response to a glucose challenge test

• neither left atrial dilation and thrombosis nor cardiac fibrosis or ectopic cartilage formation are observed

Genotype
MGI:3622110

cx2

• Allelic Composition: Btc^tm1Dcl/Btc^tm1Dcl; Hbegf^tm1Dcl/Hbegf^tm1Dcl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

mortality/aging

premature death ( J:83820 )

• 54% of double homozygotes die by 4 months of age while 83% are found dead within the first year, indicating a further reduction in lifespan relative to single Hbegf^tm1Dcl homozygotes

cardiovascular system

enlarged atrioventricular valve ( J:83820 )

• newborn double homozygotes display enlarged atrioventricular valves

dilated heart left atrium ( J:83820 )

• adult double homozygotes exhibit left atrial dilation, rarely or never observed in single Hbegf^tm1Dcl homozygotes

enlarged semilunar valve ( J:83820 )

• newborn double homozygotes display enlarged semilunar valves

enlarged aortic valve ( J:83820 )

• newborn double homozygotes display enlarged aortic valves; however, the mean aortic valve area of double mutants is not significantly different from that of single Hbegf^tm1Dcl homozygotes

enlarged pulmonary valve ( J:83820 )

cardiac fibrosis ( J:83820 )

• at ~2 months, moribund double homozygotes exhibit extensive intraventricular or focal epicardial fibrosis within or on the left ventricle, rarely or never observed in single Hbegf^tm1Dcl homozygotes

decreased heart ventricle muscle contractility ( J:83820 )

♂ • at 4 months, male double homozygotes exhibit reduced fractional shortening (58.8 +/- 15.9) relative to wild-type males (71.8 +/- 3.3), indicating significant systolic dysfunction

muscle

decreased heart ventricle muscle contractility ( J:83820 )

♂ • at 4 months, male double homozygotes exhibit reduced fractional shortening (58.8 +/- 15.9) relative to wild-type males (71.8 +/- 3.3), indicating significant systolic dysfunction

homeostasis/metabolism

abnormal atrial thrombosis ( J:83820 )

• adult double homozygotes exhibit left atrial thrombosis, rarely or never observed in single Hbegf^tm1Dcl homozygotes

growth/size/body

decreased body weight ( J:83820 )

• at 4 months, male double homozygotes exhibit a reduced body weight (29.0 +/- 2.5) relative to wild-type males (33.6 +/- 2.8 g)

skeleton

ectopic cartilage ( J:83820 )

• double homozygotes display chondrocytes and ectopic cartilage formation throughout the aortic valve leaflets, similar to single Hbegf^tm1Dcl homozygotes