Phenotypes associated with this allele

• Allele Symbol: Ltbp1^tm1Veto
• Allele Name: targeted mutation 1, Vesna Todorovic
• Allele ID: MGI:3765966
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ltbp1^tm1Veto/Ltbp1^tm1Veto	involves: 129 * C57BL/6	MGI:3765971

Genotype
MGI:3765971

hm1

• Allelic Composition: Ltbp1^tm1Veto/Ltbp1^tm1Veto
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:128012 )

• the number of embryos at E14.5 is reduced by 40% and only 55% of expected embryos are born

neonatal lethality, complete penetrance ( J:128012 )

• mice die within hours of birth

cardiovascular system

abnormal fourth pharyngeal arch artery morphology ( J:128012 )

• soon after E11.5, the fourth pharyngeal arch artery (PAA) regresses due to enhanced apoptosis of smooth muscle cells surrounding the left fourth PAA

interrupted aortic arch ( J:128012 )

• 21 of 26 mice exhibit an interruption in the aortic arch (IAA)

• unlike in wild-type mice, the only connection between the heart and the dorsal aorta is the ductus arteriosus

• IAA occurs either between the left common carotid and the left subclavian arteries or, in 1 of 21 mice, between the brachiocephalic and left common carotid arteries

right aortic arch ( J:128012 )

• a right-sided aortic arch is seen in 4 of 26 mice

abnormal coronary artery morphology ( J:128012 )

• in some mice the coronary artery arises from the mid-portion of the ascending aorta instead of the coronary sinus

abnormal vascular smooth muscle morphology ( J:128012 )

• soon after E11.5, smooth muscle cells surrounding the left fourth pharyngeal arch artery exhibit increased apoptosis

abnormal cardiac neural crest cell morphology ( J:128012 )

• cardiac neural crest cells fail to express two cardiac neural crest markers (Plxna2 and Foxc1)

abnormal truncus arteriosus septation ( J:128012 )

• at E11.5, the aortic sac fails to form the aortico-pulmonary septum

• however, the number of cardiac neural crest cells invading the outflow tract is normal

persistent truncus arteriosus ( J:128012 )

• all mice exhibit persistent truncus arteriosis

common atrium ( J:128012 )

• mice lack an atrial septum

perimembraneous ventricular septal defect ( J:128012 )

• the basal portion of the ventricular septum (the membranous septum) is missing

embryo

abnormal fourth pharyngeal arch artery morphology ( J:128012 )

• soon after E11.5, the fourth pharyngeal arch artery (PAA) regresses due to enhanced apoptosis of smooth muscle cells surrounding the left fourth PAA

abnormal cardiac neural crest cell morphology ( J:128012 )

• cardiac neural crest cells fail to express two cardiac neural crest markers (Plxna2 and Foxc1)

homeostasis/metabolism

cyanosis ( J:128012 )

• at birth

muscle

abnormal vascular smooth muscle morphology ( J:128012 )

• soon after E11.5, smooth muscle cells surrounding the left fourth pharyngeal arch artery exhibit increased apoptosis

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:128012 )

• soon after E11.5, the fourth pharyngeal arch artery (PAA) regresses due to enhanced apoptosis of smooth muscle cells surrounding the left fourth PAA

nervous system

abnormal cardiac neural crest cell morphology ( J:128012 )

• cardiac neural crest cells fail to express two cardiac neural crest markers (Plxna2 and Foxc1)