Phenotypes associated with this allele

• Allele Symbol: Tulp4^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4365109
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tulp4^tm1a(KOMP)Wtsi/Tulp4^tm1a(KOMP)Wtsi	involves: C57BL/6N * C57BL/6NRj	MGI:7578808
ht2	Tulp4^tm1a(KOMP)Wtsi/Tulp4^+	involves: C57BL/6N * C57BL/6NRj	MGI:7578823

Genotype
MGI:7578808

hm1

• 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

Genotype
MGI:7578823

ht2

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

mortality/aging

mortality/aging ( J:344151 )

N • despite a broad range of anatomic abnormalities detected at E14.5, mice exhibit normal prenatal and postnatal survival

cardiovascular system

cardiovascular system phenotype ( J:344151 )

N • adult mice show no signs of thrombosis or vascular disease; blood vessels of different organs (including lung, liver, and spleen) and sections of the heart and aortic valves show no evidence of blood clots, anatomical abnormalities, or vascular defects at the cellular level

abnormal artery morphology ( J:344151 )

• at E14.5, four of 7 embryos show abnormal morphology of the head arteries or the vertebral artery

abnormal vertebral artery morphology ( J:344151 )

abnormal liver vasculature morphology ( J:344151 )

• at E14.5, five of 7 embryos show abnormal liver vasculature

abnormal hepatic portal vein connection ( J:344151 )

• abnormal connection of branches of right liver and portal vein at E14.5

dual inferior vena cava ( J:344151 )

• at E14.5, two of 7 embryos show dual inferior vena cava

telangiectasia ( J:344151 )

• at E14.5, one of 7 embryos shows telangiectasia

growth/size/body

increased body weight ( J:344151 )

• longitudinal weighting of a large mouse cohort under controlled conditions showed a trend for increased body weight at an age of 26 weeks for males and 38 weeks for females; in males, weight differences become significant at 62 and 66 weeks of age

lung cyst ( J:344151 )

• at E14.5, one of 7 embryos shows a blood-filled cyst in the lung

liver/biliary system

abnormal liver vasculature morphology ( J:344151 )

• at E14.5, five of 7 embryos show abnormal liver vasculature

muscle

telangiectasia ( J:344151 )

• at E14.5, one of 7 embryos shows telangiectasia

abnormal infrahyoid muscle morphology ( J:344151 )

• at E14.5, two of 7 embryos show anomalies affecting the infrahyoid muscles

skeleton

abnormal sternum morphology ( J:344151 )

• at E14.5, one of 7 embryos shows sternal malformation with abnormal morphology of sternal ridges

abnormal rib development ( J:344151 )

• at E14.5, one of 7 embryos shows abnormal rib development

nervous system

thin hypoglossal nerve ( J:344151 )

• at E14.5, one of 7 embryos shows a thin hypoglossal nerve unilaterally

reproductive system

abnormal testis tissue architecture ( J:344151 )

• at E14.5, one of 7 embryos shows abnormal testis tissue architecture

respiratory system

lung cyst ( J:344151 )

• at E14.5, one of 7 embryos shows a blood-filled cyst in the lung

abnormal infrahyoid muscle morphology ( J:344151 )

• at E14.5, two of 7 embryos show anomalies affecting the infrahyoid muscles

homeostasis/metabolism

subcutaneous edema ( J:344151 )

• at E14.5, two of 7 embryos with absent connection between the subcutaneous lymph vessels and lymph sacs show subcutaneous edema

hematopoietic system

hematopoietic system phenotype ( J:344151 )

N • adult mice show no evidence of aberrant hematopoiesis

immune system

immune system phenotype ( J:344151 )

N • adult mice show no evidence of immunological abnormalities; immunophenotyping of peripheral blood and bone marrow showed no quantitative alterations in leukocytes and leukocyte subsets

absent connection between subcutaneous lymph vessels and lymph sac ( J:344151 )

• at E14.5, two of 7 embryos show a missing connection between the subcutaneous lymph vessels and left lymph sac in conjunction with subcutaneous edema

endocrine/exocrine glands

abnormal testis tissue architecture ( J:344151 )

• at E14.5, one of 7 embryos shows abnormal testis tissue architecture

integument

subcutaneous edema ( J:344151 )

• at E14.5, two of 7 embryos with absent connection between the subcutaneous lymph vessels and lymph sacs show subcutaneous edema