Phenotypes Associated with This Genotype

Genotype
MGI:5630969

• Allelic Composition: Chtop^{tm1a(EUCOMM)Wtsi}/Chtop^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Chtop^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0635_2_D03

Data Sources

IMPC Data for Chtop

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

cardiovascular system

retroesophageal right subclavian artery ( J:239583 )

DMDD

right aortic arch ( J:239583 )

DMDD

abnormal carotid artery origin ( J:239583 )

DMDD

anastomosis between common carotid and vertebral artery ( J:239583 )

DMDD

absent parasellar internal carotid artery ( J:239583 )

DMDD

absent celiac artery ( J:239583 )

DMDD

retroesophageal left subclavian artery ( J:239583 )

DMDD

abnormal subclavian artery origin ( J:239583 )

DMDD

abnormal vertebral artery topology ( J:239583 )

DMDD

absent extracranial vertebral artery segment ( J:239583 )

DMDD

abnormal placental labyrinth vasculature morphology ( J:261316 )

• labyrinth vascular defect at E14.5

abnormal vitelline vein connection ( J:239583 )

DMDD

abnormal vitelline vein topology ( J:239583 )

DMDD

abnormal azygos vein topology ( J:239583 )

DMDD

abnormal ductus venosus morphology ( J:239583 )

DMDD

abnormal ductus venosus valve topology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

ductus venosus stenosis ( J:239583 )

DMDD

abnormal hepatic portal vein morphology ( J:239583 )

DMDD

abnormal hepatic portal vein formation ( J:239583 )

DMDD

absent intrahepatic inferior vena cava segment ( J:239583 )

DMDD

arteriovenous malformation ( J:239583 )

DMDD

persistent truncus arteriosus ( J:239583 )

DMDD

abnormal fetal atrioventricular canal morphology ( J:239583 )

DMDD

double outlet right ventricle ( J:239583 , J:261316 )

DMDD (J:239583)

MGI (J:261316)

anomalous pulmonary venous connection ( J:239583 )

DMDD

abnormal atrioventricular valve morphology ( J:239583 )

DMDD

common atrium ( J:239583 )

DMDD

ostium primum atrial septal defect ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 )

DMDD

bicuspid aortic valve ( J:239583 , J:261316 )

DMDD (J:239583)

MGI (J:261316)

internal hemorrhage ( J:239583 )

DMDD

craniofacial

absent hypoglossal canal ( J:239583 )

DMDD

fusion of atlas and occipital bones ( J:239583 )

DMDD

abnormal viscerocranium morphology ( J:239583 )

DMDD

abnormal hyoid bone body morphology ( J:239583 )

DMDD

abnormal maxilla morphology ( J:239583 )

DMDD

digestive/alimentary system

anal atresia ( J:239583 )

DMDD

abnormal small intestine placement ( J:239583 )

DMDD

abnormal rectum morphology ( J:239583 )

DMDD

intestinal stenosis ( J:239583 )

DMDD

abnormal salivary gland morphology ( J:239583 )

DMDD

embryo

abnormal vitelline vein connection ( J:239583 )

DMDD

abnormal vitelline vein topology ( J:239583 )

DMDD

abnormal Wolffian duct morphology ( J:239583 )

DMDD

myelocele ( J:239583 )

DMDD

embryo cyst ( J:239583 )

DMDD

abnormal placenta morphology ( J:261316 )

• reduced cellular density of placenta at E14.5

abnormal placental labyrinth vasculature morphology ( J:261316 )

• labyrinth vascular defect at E14.5

abnormal spongiotrophoblast layer morphology ( J:261316 )

• abnormal spongiotrophoblast inclusions in the placenta at E14.5

endocrine/exocrine glands

abnormal salivary gland morphology ( J:239583 )

DMDD

abnormal adenohypophysis morphology ( J:239583 )

DMDD

abnormal neurohypophysis morphology ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

abnormal thyroid gland morphology ( J:239583 )

DMDD

thyroid gland hypoplasia ( J:239583 )

DMDD

abnormal pancreas topology ( J:239583 )

DMDD

abnormal dorsal pancreas topology ( J:239583 )

DMDD

growth/size/body

embryo cyst ( J:239583 )

DMDD

fetal growth retardation ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

hematopoietic system

spleen hypoplasia ( J:239583 )

DMDD

absent spleen ( J:239583 )

DMDD

homeostasis/metabolism

subcutaneous edema ( J:239583 )

DMDD

immune system

spleen hypoplasia ( J:239583 )

DMDD

absent spleen ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:261316 )

• fewer than the expected number of fetuses are seen at E14.5, indicating sub-viability at this time

preweaning lethality, complete penetrance ( J:211773 )

IMPC - WTSI

muscle

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal abdominal muscle morphology ( J:239583 )

DMDD

diaphragmatic hernia ( J:239583 )

DMDD

nervous system

myelocele ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

reduced sympathetic cervical ganglion size ( J:239583 )

DMDD

holoprosencephaly ( J:239583 )

DMDD

abnormal brain interventricular foramen morphology ( J:239583 )

DMDD

abnormal choroid plexus morphology ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

abnormal adenohypophysis morphology ( J:239583 )

DMDD

abnormal neurohypophysis morphology ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

abnormal olfactory bulb position ( J:239583 )

DMDD

absent olfactory bulb ( J:239583 )

DMDD

abnormal brachial plexus formation ( J:239583 )

DMDD

small nodose ganglion ( J:239583 )

DMDD

absent hypoglossal nerve ( J:239583 )

DMDD

thin hypoglossal nerve ( J:239583 )

DMDD

absent dorsal root ganglion ( J:239583 )

DMDD

fused dorsal root ganglion ( J:239583 )

DMDD

renal/urinary system

pelvic kidney ( J:239583 )

DMDD

abnormal ureter topology ( J:239583 )

DMDD

blind ureter ( J:239583 )

DMDD

urinary bladder hypoplasia ( J:239583 )

DMDD

respiratory system

fused right lung lobes ( J:239583 )

DMDD

skeleton

absent hypoglossal canal ( J:239583 )

DMDD

abnormal viscerocranium morphology ( J:239583 )

DMDD

abnormal hyoid bone body morphology ( J:239583 )

DMDD

abnormal maxilla morphology ( J:239583 )

DMDD

absent costovertebral joint ( J:239583 )

DMDD

decreased rib number ( J:239583 )

DMDD

rib bifurcation ( J:239583 )

DMDD

rib fusion ( J:239583 )

DMDD

decreased thoracic vertebrae number ( J:239583 )

DMDD

scoliosis ( J:239583 )

DMDD

abnormal cervical atlas morphology ( J:239583 )

DMDD

fusion of atlas and occipital bones ( J:239583 )

DMDD

decreased cervical vertebrae number ( J:239583 )

DMDD

absent vertebral arch ( J:239583 )

DMDD

fusion of vertebral arches ( J:239583 )

DMDD

abnormal vertebral body morphology ( J:239583 )

DMDD

absent vertebrae ( J:239583 )

DMDD

vision/eye

abnormal eye morphology ( J:239583 )

DMDD

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

abnormal optic stalk morphology ( J:239583 )

DMDD