Phenotypes Associated with This Genotype

Genotype
MGI:5631501

• Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0373_5_A04

Data Sources

IMPC Data for Rpgrip1l

• ♀: 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

right aortic arch ( J:239583 )

DMDD

abnormal carotid artery morphology ( J:239583 )

DMDD

abnormal internal carotid artery morphology ( J:239583 )

DMDD

abnormal internal carotid artery topology ( J:239583 )

DMDD

absent canalicular internal carotid artery segment ( J:239583 )

DMDD

absent parasellar internal carotid artery ( J:239583 )

DMDD

retroesophageal left subclavian artery ( J:239583 )

DMDD

abnormal subclavian artery origin ( J:239583 )

DMDD

abnormal vertebral artery origin ( J:239583 )

DMDD

absent intracranial segment of vertebral artery ( J:239583 )

DMDD

inverse situs of great intrathoracic arteries ( J:239583 )

DMDD

abnormal cranial blood vasculature morphology ( J:239583 )

DMDD

abnormal brain vasculature morphology ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal basilar artery morphology ( J:239583 )

DMDD

anastomosis between internal carotid artery and basilar artery ( 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

abnormal vitelline vein connection ( J:239583 )

DMDD

abnormal azygos vein topology ( J:239583 )

DMDD

symmetric azygos veins ( J:239583 )

DMDD

abnormal ductus venosus valve topology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

abnormal hepatic portal vein formation ( J:239583 )

DMDD

abnormal inferior vena cava topology ( J:239583 )

DMDD

absent intrahepatic inferior vena cava segment ( J:239583 )

DMDD

abnormal atrioventricular cushion morphology ( J:239583 )

DMDD

abnormal coronary sinus connection ( J:239583 )

DMDD

double outlet left ventricle ( J:239583 )

DMDD

double outlet right ventricle ( J:239583 )

DMDD

transposition of great arteries ( J:239583 )

DMDD

anomalous pulmonary venous connection ( J:239583 )

DMDD

abnormal inferior vena cava valve morphology ( J:239583 )

DMDD

atrial septal defect ( J:239583 )

DMDD

common atrium ( J:239583 )

DMDD

abnormal heart position or orientation ( J:239583 )

DMDD

atrial situs inversus ( J:239583 )

DMDD

left atrial isomerism ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 )

DMDD

liver hemorrhage ( J:239583 )

DMDD

placenta hemorrhage ( J:261316 )

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

craniofacial

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

DMDD

abnormal basioccipital bone morphology ( J:239583 )

DMDD

abnormal basisphenoid bone morphology ( J:239583 )

DMDD

abnormal hyoid bone morphology ( J:239583 )

DMDD

abnormal incisor morphology ( J:239583 )

DMDD

abnormal maxilla morphology ( J:239583 )

DMDD

cleft upper lip ( J:239583 )

DMDD

abnormal palate morphology ( J:239583 )

DMDD

cleft palate ( J:239583 )

DMDD

decreased tongue size ( J:239583 )

DMDD

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal nasal septum morphology ( J:239583 )

DMDD

digestive/alimentary system

abnormal palate morphology ( J:239583 )

DMDD

cleft palate ( J:239583 )

DMDD

decreased tongue size ( J:239583 )

DMDD

abnormal intestine placement ( J:239583 )

DMDD

absent sublingual gland ( J:239583 )

DMDD

embryo

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

DMDD

abnormal umbilical vein topology ( J:239583 )

DMDD

abnormal vitelline vein connection ( J:239583 )

DMDD

placenta hemorrhage ( J:261316 )

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

abnormal Mullerian duct topology ( J:239583 )

DMDD

abnormal placenta morphology ( J:261316 )

• fibrotic/necrotic areas in the placenta at E14.5

abnormal placental labyrinth vasculature morphology ( J:261316 )

• labyrinth vascular defect at E14.5

small placenta ( J:261316 )

• small placenta at E14.5

placenta necrosis ( J:261316 )

• necrotic areas in the placenta at E14.5

endocrine/exocrine glands

absent sublingual gland ( J:239583 )

DMDD

absent adenohypophysis ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

abnormal ventral pancreas morphology ( J:239583 )

DMDD

abnormal pancreas topology ( J:239583 )

DMDD

abnormal testis morphology ( J:239583 )

DMDD

growth/size/body

abnormal incisor morphology ( J:239583 )

DMDD

cleft upper lip ( J:239583 )

DMDD

abnormal palate morphology ( J:239583 )

DMDD

cleft palate ( J:239583 )

DMDD

decreased tongue size ( J:239583 )

DMDD

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal nasal septum morphology ( J:239583 )

DMDD

thoracoschisis ( J:239583 )

DMDD

liver cyst ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

heterotaxia ( J:239583 )

DMDD

atrial situs inversus ( J:239583 )

DMDD

left atrial isomerism ( J:239583 )

DMDD

abdominal situs ambiguus ( J:239583 )

DMDD

left pulmonary isomerism ( J:239583 )

DMDD

hearing/vestibular/ear

abnormal inner ear morphology ( 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

absent connection between subcutaneous lymph vessels and lymph sac ( 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 hemorrhage ( 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

abnormal brain vasculature morphology ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal basilar artery morphology ( J:239583 )

DMDD

anastomosis between internal carotid artery and basilar artery ( J:239583 )

DMDD

absent superior cervical ganglion ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

holoprosencephaly ( J:239583 )

DMDD

absent brain internal capsule ( J:239583 )

DMDD

abnormal midbrain morphology ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

absent adenohypophysis ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

abnormal olfactory bulb morphology ( J:239583 )

DMDD

absent olfactory bulb ( J:239583 )

DMDD

abnormal hindbrain morphology ( J:239583 )

DMDD

abnormal accessory nerve morphology ( J:239583 )

DMDD

thin facial nerve ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

absent hypoglossal nerve ( J:239583 )

DMDD

thin hypoglossal nerve ( J:239583 )

DMDD

absent oculomotor nerve ( J:239583 )

DMDD

absent optic chiasm ( J:239583 )

DMDD

thin motoric part of trigeminal nerve ( J:239583 )

DMDD

abnormal intrathoracic topology of vagus nerve ( J:239583 )

DMDD

small dorsal root ganglion ( J:239583 )

DMDD

renal/urinary system

bifid ureter ( J:239583 )

DMDD

reproductive system

abnormal testis morphology ( J:239583 )

DMDD

respiratory system

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal nasal septum morphology ( J:239583 )

DMDD

abnormal right lung morphology ( J:239583 )

DMDD

left pulmonary isomerism ( J:239583 )

DMDD

skeleton

abnormal basioccipital bone morphology ( J:239583 )

DMDD

abnormal basisphenoid bone morphology ( J:239583 )

DMDD

abnormal hyoid bone morphology ( J:239583 )

DMDD

abnormal incisor morphology ( J:239583 )

DMDD

abnormal maxilla morphology ( J:239583 )

DMDD

abnormal rib morphology ( J:239583 )

DMDD

abnormal vertebral arch morphology ( J:239583 )

DMDD

fusion of vertebral arches ( J:239583 )

DMDD

abnormal vertebral body morphology ( J:239583 )

DMDD

absent vertebral body ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

absent optic chiasm ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

abnormal optic stalk morphology ( J:239583 )

DMDD

anophthalmia ( J:239583 )

DMDD