Phenotypes associated with this allele

• Allele Symbol: Efemp2^tm1.2Tynk
• Allele Name: targeted mutation 1.2, Tomoyuki Nakamura
• Allele ID: MGI:4410302
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efemp2^tm1.2Tynk/Efemp2^tm1.2Tynk	involves: C57BL/6	MGI:4410313
cn2	Efemp2^tm1.1Tynk/Efemp2^tm1.2Tynk Tg(Tagln-cre)1Her/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4410315

Genotype
MGI:4410313

hm1

• Allelic Composition: Efemp2^tm1.2Tynk/Efemp2^tm1.2Tynk
• Genetic Background: involves: C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:154659 )

• mice die shortly after birth

cardiovascular system

abnormal aorta morphology ( J:154659 )

• the aorta is tortuous unlike in wild-type mice

abnormal aorta elastic tissue morphology ( J:154659 )

• the aortic elastic laminae is complete disarranged

• the elastogenesis is abolished

muscle

diaphragmatic hernia ( J:154659 )

• severe at birth

Genotype
MGI:4410315

cn2

• Allelic Composition: Efemp2^tm1.1Tynk/Efemp2^tm1.2Tynk; Tg(Tagln-cre)1Her/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

cardiovascular system

abnormal aorta elastic tissue morphology ( J:154659 )

• at P0, the aortic laminae is disrupted unlike in wild-type mice

• at P14, the elastic laminae is disrupted unlike in wild-type mice

• at 12 weeks, aorta are less distensible than in wild-type mice

• mice loss the internal elastic lamina in the ascending aorta unlike wild-type mice

abnormal aortic arch morphology ( J:154659 )

• slightly elongated

ascending aorta aneurysm ( J:154659 )

• severe ascending aortic aneurysms

dilated ascending aorta ( J:154659 )

• the ascending aorta from the aortic root to just distal to the branching point of the brachiocephalic artery is dilated

• however, no aortic stenosis is observed

heart left ventricle hypertrophy ( J:154659 )

aortic valve regurgitation ( J:154659 )

abnormal blood vessel physiology ( J:154659 )

• at 12 weeks, aorta are less distensible and stiffer than in wild-type mice

growth/size/body

heart left ventricle hypertrophy ( J:154659 )

muscle

heart left ventricle hypertrophy ( J:154659 )