Phenotypes associated with this allele

• Allele Symbol: Cfap53^{em1(IMPC)Wtsi}
• Allele Name: endonuclease-mediated mutation 1, Wellcome Trust Sanger Institute
• Allele ID: MGI:6153305
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cfap53^em1(IMPC)Wtsi/Cfap53^em1(IMPC)Wtsi	C57BL/6N-Cfap53^em1(IMPC)Wtsi/Wtsi	MGI:6161264
ht2	Cfap53^em1(IMPC)Wtsi/Cfap53^+	C57BL/6N-Cfap53^em1(IMPC)Wtsi/Wtsi	MGI:6262116

Genotype
MGI:6161264

hm1

• Allelic Composition: Cfap53^{em1(IMPC)Wtsi}/Cfap53^{em1(IMPC)Wtsi}
• Genetic Background: C57BL/6N-Cfap53^{em1(IMPC)Wtsi}/Wtsi

Data Sources

IMPC Data for Cfap53

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

cardiovascular system

abnormal vertebral artery topology ( J:239583 )

DMDD

inverse situs of great intrathoracic 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 azygos vein topology ( J:239583 )

DMDD

symmetric azygos veins ( J:239583 )

DMDD

abnormal ductus venosus valve morphology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

hepatic portal vein stenosis ( J:239583 )

DMDD

abnormal superior mesenteric vein topology ( J:239583 )

DMDD

absent intrahepatic inferior vena cava segment ( J:239583 )

DMDD

dual inferior vena cava ( J:239583 )

DMDD

double outlet left ventricle ( J:239583 )

DMDD

anomalous pulmonary venous connection ( J:239583 )

DMDD

double inlet heart right ventricle ( J:239583 )

DMDD

abnormal inferior vena cava valve morphology ( J:239583 )

DMDD

common atrium ( 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

embryo

placenta hemorrhage ( J:261316 )

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

abnormal Mullerian duct morphology ( 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

placenta necrosis ( J:261316 )

• necrotic areas in the placenta at E14.5

endocrine/exocrine glands

abnormal thymus topology ( J:239583 )

DMDD

abnormal ventral pancreas topology ( J:239583 )

DMDD

abnormal ovary topology ( J:239583 )

DMDD

growth/size/body

thoracoschisis ( J:239583 )

DMDD

epidermal cyst ( J:239583 )

DMDD

abdominal situs ambiguus ( J:239583 )

DMDD

left pulmonary isomerism ( J:239583 )

DMDD

situs ambiguus ( J:239583 )

DMDD

situs inversus totalis ( J:239583 )

DMDD

hematopoietic system

abnormal thymus topology ( J:239583 )

DMDD

small spleen ( J:239583 )

DMDD

homeostasis/metabolism

retropleural edema ( J:239583 )

DMDD

subcutaneous edema ( J:239583 )

DMDD

immune system

abnormal thymus topology ( J:239583 )

DMDD

small spleen ( J:239583 )

DMDD

blood in lymph vessels ( J:239583 )

DMDD

integument

epidermal cyst ( J:239583 )

DMDD

subcutaneous edema ( J:239583 )

DMDD

liver/biliary system

abnormal liver morphology ( J:239583 )

DMDD

dilated liver sinusoidal space ( J:239583 )

DMDD

herniated liver ( J:239583 )

DMDD

mortality/aging

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

IMPC - WTSI (J:211773)

MGI

• fewer than the expected numbers of mice are seen at P14 (J:261316)

nervous system

small superior cervical ganglion ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

abnormal intrathoracic topology of vagus nerve ( J:239583 )

DMDD

reproductive system

abnormal ovary topology ( J:239583 )

DMDD

respiratory system

left pulmonary isomerism ( J:239583 )

DMDD

Genotype
MGI:6262116

ht2

• Allelic Composition: Cfap53^{em1(IMPC)Wtsi}/Cfap53⁺
• Genetic Background: C57BL/6N-Cfap53^{em1(IMPC)Wtsi}/Wtsi

Data Sources

IMPC Data for Cfap53

behavior/neurological

increased grip strength ( J:211773 )

IMPC - WTSI