Phenotypes Associated with This Genotype

Genotype
MGI:5630873

• Allelic Composition: Atp11a^{tm1a(KOMP)Wtsi}/Atp11a^{tm1a(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Atp11a^{tm1a(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0111_4_B04

Data Sources

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

cardiovascular system

abnormal artery morphology ( J:239583 )

DMDD

persistent trigeminal artery ( J:239583 )

DMDD

aorta coarctation ( J:239583 )

DMDD

abnormal carotid artery morphology ( J:239583 )

DMDD

abnormal vertebral artery morphology ( J:239583 )

DMDD

additional anastomosis between intracranial vertebral arteries ( J:239583 )

DMDD

dilated liver sinusoidal space ( J:239583 )

DMDD

abnormal placental labyrinth vasculature morphology ( J:261316 )

• labyrinth vascular defect at E14.5

abnormal umbilical vein topology ( J:239583 )

DMDD

umbilical vein stenosis ( J:239583 )

DMDD

abnormal vitelline vein topology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

absent pectinate muscle ( J:239583 )

DMDD

thin myocardium compact layer ( J:239583 )

DMDD

abnormal coronary sinus connection ( J:239583 )

DMDD

overriding aortic valve ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 , J:261316 )

DMDD (J:239583)

MGI (J:261316)

placenta hemorrhage ( J:261316 )

• hemorrhagic areas/blood pools are seen in the E14.5 placenta

craniofacial

abnormal Meckel's cartilage morphology ( J:239583 )

DMDD

abnormal nasal cavity morphology ( J:239583 )

DMDD

embryo

abnormal placental labyrinth vasculature morphology ( J:261316 )

• labyrinth vascular defect at E14.5

abnormal umbilical vein topology ( J:239583 )

DMDD

umbilical vein stenosis ( J:239583 )

DMDD

abnormal vitelline vein topology ( J:239583 )

DMDD

placenta hemorrhage ( J:261316 )

• hemorrhagic areas/blood pools are seen in the E14.5 placenta

abnormal Mullerian duct morphology ( J:239583 )

DMDD

small placenta ( J:261316 )

• small placenta at E14.5

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:239583 )

DMDD

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

abnormal thymus morphology ( J:239583 )

DMDD

growth/size/body

abnormal nasal cavity morphology ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

hematopoietic system

abnormal thymus morphology ( J:239583 )

DMDD

homeostasis/metabolism

subcutaneous edema ( J:239583 )

DMDD

immune system

abnormal thymus morphology ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

limbs/digits/tail

abnormal elbow joint morphology ( J:239583 )

DMDD

liver/biliary system

dilated liver sinusoidal space ( J:239583 )

DMDD

liver hypoplasia ( J:239583 )

DMDD

herniated liver ( J:239583 )

DMDD

mortality/aging

preweaning lethality, complete penetrance ( J:261316 )

• lethality at P14, with viable fetuses at E14.5

muscle

absent pectinate muscle ( J:239583 )

DMDD

thin myocardium compact layer ( J:239583 )

DMDD

abnormal eye muscle morphology ( J:239583 )

DMDD

neoplasm

increased trigeminal neuroma incidence ( J:239583 )

DMDD

nervous system

abnormal adenohypophysis morphology ( J:239583 )

DMDD

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

increased trigeminal neuroma incidence ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

reduced sympathetic cervical ganglion size ( J:239583 )

DMDD

abnormal olfactory bulb morphology ( J:239583 )

DMDD

exencephaly ( J:239583 )

DMDD

abnormal olfactory nerve morphology ( J:239583 )

DMDD

absent olfactory nerve ( J:239583 )

DMDD

respiratory system

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal larynx morphology ( J:239583 )

DMDD

skeleton

abnormal Meckel's cartilage morphology ( J:239583 )

DMDD

abnormal elbow joint morphology ( J:239583 )

DMDD

increased rib number ( J:239583 )

DMDD

vision/eye

abnormal eye morphology ( J:239583 )

DMDD

abnormal eye muscle morphology ( J:239583 )

DMDD

aphakia ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

abnormal optic stalk morphology ( J:239583 )

DMDD

narrow eye opening ( J:239583 )

DMDD