Phenotypes Associated with This Genotype

Genotype
MGI:7578808

• Allelic Composition: Tulp4^{tm1a(KOMP)Wtsi}/Tulp4^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N * C57BL/6NRj
• Cell Lines: EPD0112_4_G12

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

mortality/aging

perinatal lethality, complete penetrance ( J:344151 )

• although homozygotes are recovered at E14.5 and E17.5, only one neonate with a functionally intact digestive system is found at P0 but dies after birth

preweaning lethality, incomplete penetrance ( J:344151 )

• only one alive homozygous pup is obtained from heterozygous intercrosses at P7 (3% versus expected 25%); this pup was sick and small in size and thus sacrificed on P7

cardiovascular system

abnormal cardiovascular system morphology ( J:344151 )

• at E14.5, all (4 of 4) embryos exhibit significant abnormalities of the cardiovascular system, as determined by high-resolution episcopic microscopy (HREM)

abnormal artery morphology ( J:344151 )

• at E14.5, all (4 of 4 embryos) show abnormal dilated head arteries in conjunction with thin vessel walls

• one E14.5 embryo shows complex malformations of the intrathoracic and cranial arteries, including a right sided aortic arch, a retroesophageal left subclavian artery, an abnormal external carotid artery running parallel with the internal carotid artery over a longer distance, abnormal topology of the left intracranial vertebral artery, a hypoplasia of the left stapedial artery, and a missing segment of the right posterior cerebral artery

right aortic arch ( J:344151 )

• one E14.5 embryo exhibits a right sided aortic arch

abnormal external carotid artery origin ( J:344151 )

• one E14.5 embryo exhibits abnormal origin of left external carotid artery

absent segment of posterior cerebral artery ( J:344151 )

• one E14.5 embryo exhibits a missing segment of the right posterior cerebral artery

retroesophageal left subclavian artery ( J:344151 )

• one E14.5 embryo exhibits a retroesophageal left subclavian artery

abnormal vertebral artery morphology ( J:344151 )

• one E14.5 embryo exhibits abnormal topology of the left intracranial vertebral artery

abnormal stapedial artery morphology ( J:344151 )

• one E14.5 embryo exhibits a hypoplastic left stapedial artery

absent ductus venosus valve ( J:344151 )

• at E14.5, one of 4 embryos shows absence of the ductus venosus valve

abnormal hepatic vein connection ( J:344151 )

• at E14.5, one of 4 embryos shows an abnormal hepatic vein connection

double outlet right ventricle ( J:344151 )

• at E14.5, two of 4 embryos exhibit double outlet right ventricle (DORV)

perimembraneous ventricular septal defect ( J:344151 )

• at E14.5, one of 4 embryos exhibits a perimembranous ventricular septal defect

muscular ventricular septal defect ( J:344151 )

• at E14.5, one of 4 embryos exhibits a muscular ventricular septal defect

bicuspid aortic valve ( J:344151 )

• at E14.5, one of 4 embryos exhibits a bicuspid aortic valve

endocrine/exocrine glands

abnormal thymus topology ( J:344151 )

• at E14.5, two of 4 embryos show abnormal thymus topology

abnormal thyroid gland morphology ( J:344151 )

• at E14.5, two of 4 embryos show abnormal morphology of the thyroid gland; one embryo exhibits a small left lobe of the thyroid gland

abnormal thyroid gland isthmus morphology ( J:344151 )

• at E14.5, one of 4 embryos shows abnormal thyroid gland isthmus morphology

hematopoietic system

abnormal thymus topology ( J:344151 )

• at E14.5, two of 4 embryos show abnormal thymus topology

nervous system

absent segment of posterior cerebral artery ( J:344151 )

• one E14.5 embryo exhibits a missing segment of the right posterior cerebral artery

hearing/vestibular/ear

abnormal stapedial artery morphology ( J:344151 )

• one E14.5 embryo exhibits a hypoplastic left stapedial artery

immune system

abnormal thymus topology ( J:344151 )

• at E14.5, two of 4 embryos show abnormal thymus topology