Phenotypes Associated with This Genotype

Genotype
MGI:5883885

• Allelic Composition: Smg9^{tm1b(EUCOMM)Wtsi}/Smg9^{tm1b(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Smg9^{tm1b(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0428_2_D07

Data Sources

IMPC Data for Smg9

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

cardiovascular system

persistent right dorsal aorta ( J:239583 )

DMDD

persistent right 6th pharyngeal arch artery ( J:239583 )

DMDD

persistent trigeminal artery ( J:239583 )

DMDD

interrupted aortic arch, type b ( J:239583 )

DMDD

aorta coarctation ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

dilated liver sinusoidal space ( J:239583 )

DMDD

abnormal vein morphology ( J:239583 )

DMDD

abnormal ductus venosus valve morphology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

duplication of ductus venosus ( J:239583 )

DMDD

abnormal inferior vena cava morphology ( J:239583 )

DMDD

abnormal atrioventricular cushion morphology ( J:239583 )

DMDD

double outlet right ventricle ( J:239583 )

DMDD

heart atrium hypoplasia ( J:239583 )

DMDD

heart left atrium hypoplasia ( J:239583 )

DMDD

abnormal inferior vena cava valve morphology ( J:239583 )

DMDD

abnormal interatrial septum morphology ( J:239583 )

DMDD

abnormal heart position or orientation ( J:239583 )

DMDD

atrioventricular septal defect ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 )

DMDD

craniofacial

persistent right 6th pharyngeal arch artery ( J:239583 )

DMDD

basisphenoid bone foramen ( J:239583 )

DMDD

abnormal middle ear ossicle morphology ( J:239583 )

DMDD

abnormal nasal cavity morphology ( J:239583 )

DMDD

embryo

persistent right 6th pharyngeal arch artery ( J:239583 )

DMDD

abnormal placenta morphology ( J:261316 )

• branching morphology defect at E9.5

small placenta ( J:261316 )

• small placenta at E14.5

endocrine/exocrine glands

abnormal neurohypophysis morphology ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

growth/size/body

abnormal nasal cavity morphology ( J:239583 )

DMDD

thoracoschisis ( J:239583 )

DMDD

liver cyst ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:239583 )

DMDD

abnormal endolymphatic duct morphology ( J:239583 )

DMDD

homeostasis/metabolism

subcutaneous edema ( J:239583 )

DMDD

immune system

absent connection between subcutaneous lymph vessels and lymph sac ( J:239583 )

DMDD

blood in lymph vessels ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

limbs/digits/tail

polydactyly ( J:239583 )

DMDD

liver/biliary system

dilated liver sinusoidal space ( J:239583 )

DMDD

liver cyst ( J:239583 )

DMDD

mortality/aging

preweaning lethality, complete penetrance ( J:211773 , J:261316 )

IMPC - WTSI (J:211773)

MGI

• lethality at P14, with viable fetuses at E14.5 (J:261316)

muscle

abnormal eye muscle morphology ( J:239583 )

DMDD

nervous system

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal neurohypophysis morphology ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

absent superior cervical ganglion ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

reduced sympathetic cervical ganglion size ( J:239583 )

DMDD

exencephaly ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

abnormal optic chiasm morphology ( J:239583 )

DMDD

absent optic chiasm ( J:239583 )

DMDD

renal/urinary system

absent kidney ( J:239583 )

DMDD

double ureter ( J:239583 )

DMDD

respiratory system

abnormal nasal cavity morphology ( J:239583 )

DMDD

skeleton

basisphenoid bone foramen ( J:239583 )

DMDD

abnormal middle ear ossicle morphology ( J:239583 )

DMDD

abnormal cervical rib ( J:239583 )

DMDD

lordosis ( J:239583 )

DMDD

fusion of vertebral bodies ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal optic chiasm morphology ( J:239583 )

DMDD

absent optic chiasm ( J:239583 )

DMDD

abnormal lens morphology ( J:239583 )

DMDD

abnormal lens topology ( J:239583 )

DMDD

aphakia ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

coloboma ( J:239583 )

DMDD

anophthalmia ( J:239583 )

DMDD