Phenotypes associated with this allele

• Allele Symbol: Psph^{tm1a(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1a, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:4950198
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psph^tm1a(EUCOMM)Hmgu/Psph^tm1a(EUCOMM)Hmgu	C57BL/6N-Psph^tm1a(EUCOMM)Hmgu/Wtsi	MGI:5700966

Genotype
MGI:5700966

hm1

• Allelic Composition: Psph^{tm1a(EUCOMM)Hmgu}/Psph^{tm1a(EUCOMM)Hmgu}
• Genetic Background: C57BL/6N-Psph^{tm1a(EUCOMM)Hmgu}/Wtsi
• Cell Lines: HEPD0722_2_C10

Data Sources

IMPC Data for Psph

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

cardiovascular system

persistent trigeminal artery ( J:239583 )

DMDD

abnormal pulmonary artery origin ( J:239583 )

DMDD

aorta coarctation ( J:239583 )

DMDD

abnormal parasellar internal carotid artery branch morphology ( J:239583 )

DMDD

absent celiac artery ( J:239583 )

DMDD

anastomosis between middle cerebral arteries ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal vertebral artery origin ( J:239583 )

DMDD

absent stapedial artery ( J:239583 )

DMDD

abnormal placental labyrinth vasculature morphology ( J:261316 )

• labyrinth vascular defect at E14.5

umbilical vein stenosis ( J:239583 )

DMDD

abnormal vitelline vein connection ( J:239583 )

DMDD

abnormal ductus venosus valve topology ( J:239583 )

DMDD

absent portal vein segment ( J:239583 )

DMDD

abnormal inferior vena cava morphology ( J:239583 )

DMDD

persistent truncus arteriosus ( J:239583 )

DMDD

double outlet right ventricle ( J:239583 )

DMDD

abnormal interatrial septum morphology ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 )

DMDD

placenta hemorrhage ( J:261316 )

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

craniofacial

fragmented Meckel's cartilage ( J:239583 )

DMDD

short Meckel's cartilage ( J:239583 )

DMDD

abnormal sphenoid bone morphology ( J:239583 )

DMDD

absent maxilla ( J:239583 )

DMDD

abnormal middle ear ossicle morphology ( J:239583 )

DMDD

abnormal oral cavity morphology ( J:239583 )

DMDD

absent tongue ( J:239583 )

DMDD

tongue hypoplasia ( J:239583 )

DMDD

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal nasal septum morphology ( J:239583 )

DMDD

abnormal vomeronasal organ morphology ( J:239583 )

DMDD

absent vomeronasal organ ( J:239583 )

DMDD

abnormal outer ear morphology ( J:239583 )

DMDD

abnormal external auditory canal morphology ( J:239583 )

DMDD

absent external auditory canal ( J:239583 )

DMDD

digestive/alimentary system

absent tongue ( J:239583 )

DMDD

tongue hypoplasia ( J:239583 )

DMDD

abnormal duodenum topology ( J:239583 )

DMDD

intraembryonal intestine elongation ( J:239583 )

DMDD

intestinal/bowel diverticulum ( J:239583 )

DMDD

abnormal salivary gland morphology ( J:239583 )

DMDD

absent salivary gland ( J:239583 )

DMDD

small salivary gland ( J:239583 )

DMDD

embryo

umbilical vein stenosis ( 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

embryonic growth retardation ( J:261316 )

• delay in developmental progress

abnormal Wolffian duct morphology ( J:239583 )

DMDD

embryo cyst ( J:239583 )

DMDD

abnormal placenta morphology ( J:261316 )

• branching morphology defect at E9.5

• 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

abnormal trophoblast layer morphology ( J:261316 )

• small or absent trophoblast compartment

• biased differentiation (diploid/polyploid trophoblast)

placenta necrosis ( J:261316 )

• necrotic areas in the placenta at E14.5

endocrine/exocrine glands

abnormal salivary gland morphology ( J:239583 )

DMDD

absent salivary gland ( J:239583 )

DMDD

small salivary gland ( J:239583 )

DMDD

abnormal bile duct morphology ( J:239583 )

DMDD

abnormal adenohypophysis morphology ( J:239583 )

DMDD

abnormal neurohypophysis morphology ( J:239583 )

DMDD

absent neurohypophysis ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

absent pineal gland ( J:239583 )

DMDD

abnormal thymus morphology ( J:239583 )

DMDD

abnormal thymus topology ( J:239583 )

DMDD

athymia ( J:239583 )

DMDD

abnormal thyroid gland morphology ( J:239583 )

DMDD

growth/size/body

abnormal oral cavity morphology ( J:239583 )

DMDD

absent tongue ( J:239583 )

DMDD

tongue hypoplasia ( J:239583 )

DMDD

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal nasal septum morphology ( J:239583 )

DMDD

abnormal vomeronasal organ morphology ( J:239583 )

DMDD

absent vomeronasal organ ( J:239583 )

DMDD

abnormal outer ear morphology ( J:239583 )

DMDD

abnormal external auditory canal morphology ( J:239583 )

DMDD

absent external auditory canal ( J:239583 )

DMDD

embryonic growth retardation ( J:261316 )

• delay in developmental progress

embryo cyst ( J:239583 )

DMDD

thoracoschisis ( J:239583 )

DMDD

epithelioid cyst ( J:239583 )

DMDD

fetal growth retardation ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

hearing/vestibular/ear

absent stapedial artery ( J:239583 )

DMDD

abnormal middle ear ossicle morphology ( J:239583 )

DMDD

abnormal outer ear morphology ( J:239583 )

DMDD

abnormal external auditory canal morphology ( J:239583 )

DMDD

absent external auditory canal ( J:239583 )

DMDD

abnormal semicircular canal morphology ( J:239583 )

DMDD

abnormal posterior semicircular canal morphology ( J:239583 )

DMDD

hematopoietic system

abnormal thymus morphology ( J:239583 )

DMDD

abnormal thymus topology ( J:239583 )

DMDD

athymia ( J:239583 )

DMDD

spleen hypoplasia ( J:239583 )

DMDD

homeostasis/metabolism

subcutaneous edema ( J:239583 , J:261316 )

DMDD (J:239583)

MGI

• massive subcutaneous edema covering the entire back of the embryo (J:261316)

immune system

abnormal thymus morphology ( J:239583 )

DMDD

abnormal thymus topology ( J:239583 )

DMDD

athymia ( J:239583 )

DMDD

spleen hypoplasia ( J:239583 )

DMDD

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

DMDD

blood in lymph vessels ( J:239583 )

DMDD

integument

epithelioid cyst ( J:239583 )

DMDD

subcutaneous edema ( J:239583 , J:261316 )

DMDD (J:239583)

MGI

• massive subcutaneous edema covering the entire back of the embryo (J:261316)

limbs/digits/tail

oligodactyly ( J:239583 )

DMDD

abnormal femur morphology ( J:239583 )

DMDD

liver/biliary system

abnormal bile duct morphology ( J:239583 )

DMDD

herniated liver ( 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

absent eye muscles ( J:239583 )

DMDD

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

neoplasm

increased trigeminal neuroma incidence ( J:239583 )

DMDD

nervous system

anastomosis between middle cerebral arteries ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal vomeronasal organ morphology ( J:239583 )

DMDD

absent vomeronasal organ ( J:239583 )

DMDD

increased trigeminal neuroma incidence ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

holoprosencephaly ( J:239583 )

DMDD

abnormal choroid plexus morphology ( J:239583 )

DMDD

abnormal brain commissure morphology ( J:239583 )

DMDD

absent posterior commissure ( J:239583 )

DMDD

abnormal brain internal capsule morphology ( J:239583 )

DMDD

absent brain internal capsule ( J:239583 )

DMDD

abnormal midbrain morphology ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

abnormal adenohypophysis morphology ( J:239583 )

DMDD

abnormal neurohypophysis morphology ( J:239583 )

DMDD

absent neurohypophysis ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

absent pineal gland ( J:239583 )

DMDD

thin cerebral cortex ( J:239583 )

DMDD

abnormal olfactory bulb morphology ( J:239583 )

DMDD

absent olfactory bulb ( J:239583 )

DMDD

abnormal hindbrain morphology ( J:239583 )

DMDD

basal brain tissue herniation ( J:239583 )

DMDD

absent abducens nerve ( J:239583 )

DMDD

abnormal facial nerve topology ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

absent hypoglossal nerve ( J:239583 )

DMDD

abnormal olfactory nerve morphology ( J:239583 )

DMDD

absent olfactory nerve ( J:239583 )

DMDD

absent optic chiasm ( J:239583 )

DMDD

absent trochlear nerve ( J:239583 )

DMDD

abnormal dorsal root ganglion topology ( J:239583 )

DMDD

abnormal spinal cord central canal morphology ( J:239583 )

DMDD

renal/urinary system

small kidney ( J:239583 )

DMDD

respiratory system

abnormal nasal cavity morphology ( J:239583 )

DMDD

abnormal nasal septum morphology ( J:239583 )

DMDD

abnormal vomeronasal organ morphology ( J:239583 )

DMDD

absent vomeronasal organ ( J:239583 )

DMDD

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

abnormal larynx morphology ( J:239583 )

DMDD

skeleton

fragmented Meckel's cartilage ( J:239583 )

DMDD

short Meckel's cartilage ( J:239583 )

DMDD

abnormal sphenoid bone morphology ( J:239583 )

DMDD

absent maxilla ( J:239583 )

DMDD

abnormal middle ear ossicle morphology ( J:239583 )

DMDD

abnormal femur morphology ( J:239583 )

DMDD

abnormal pelvic girdle bone morphology ( J:239583 )

DMDD

increased rib number ( J:239583 )

DMDD

rib fusion ( J:239583 )

DMDD

fusion of vertebral arches ( J:239583 )

DMDD

abnormal vertebral body morphology ( J:239583 )

DMDD

fusion of vertebral bodies ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

absent eye muscles ( J:239583 )

DMDD

absent optic chiasm ( J:239583 )

DMDD

abnormal lens morphology ( J:239583 )

DMDD

aphakia ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

abnormal optic stalk morphology ( J:239583 )

DMDD