Phenotypes associated with this allele

• Allele Symbol: Actn4^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4441842
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Actn4^tm1a(EUCOMM)Wtsi/Actn4^tm1a(EUCOMM)Wtsi	C57BL/6N-Actn4^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5630823
ht2	Actn4^tm1a(EUCOMM)Wtsi/Actn4^+	C57BL/6N-Actn4^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5705945

Genotype
MGI:5630823

hm1

• Allelic Composition: Actn4^{tm1a(EUCOMM)Wtsi}/Actn4^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Actn4^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0525_2_B12

Data Sources

IMPC Data for Actn4

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

cardiovascular system

persistent dorsal ophthalmic artery ( J:239583 )

DMDD

absent stapedial 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

abnormal ductus venosus valve topology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

abnormal inferior vena cava morphology ( J:239583 )

DMDD

arteriovenous malformation ( J:239583 )

DMDD

abnormal atrioventricular cushion morphology ( J:239583 )

DMDD

abnormal coronary sinus connection ( J:239583 )

DMDD

double outlet right ventricle ( J:239583 )

DMDD

overriding aortic valve ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 )

DMDD

hemopericardium ( J:239583 )

DMDD

craniofacial

abnormal hypoglossal canal morphology ( J:239583 )

DMDD

absent hypoglossal canal ( J:239583 )

DMDD

small hypoglossal canal ( J:239583 )

DMDD

short snout ( J:239583 )

DMDD

digestive/alimentary system

abnormal intestine placement ( J:239583 )

DMDD

embryo

abnormal Mullerian duct morphology ( J:239583 )

DMDD

endocrine/exocrine glands

biliary cyst ( J:239583 )

DMDD

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

growth/size/body

short snout ( J:239583 )

DMDD

biliary cyst ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

hearing/vestibular/ear

absent stapedial artery ( J:239583 )

DMDD

homeostasis/metabolism

hemopericardium ( J:239583 )

DMDD

subcutaneous edema ( J:239583 )

DMDD

immune system

blood in lymph vessels ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

liver/biliary system

dilated liver sinusoidal space ( J:239583 )

DMDD

biliary cyst ( J:239583 )

DMDD

mortality/aging

preweaning lethality, incomplete penetrance ( J:211773 )

IMPC - WTSI

muscle

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

neoplasm

increased trigeminal neuroma incidence ( J:239583 )

DMDD

embryo tumor ( J:239583 )

DMDD

nervous system

increased trigeminal neuroma incidence ( J:239583 )

DMDD

absent superior cervical ganglion ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

absent hypoglossal nerve ( J:239583 )

DMDD

thin hypoglossal nerve ( J:239583 )

DMDD

respiratory system

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

skeleton

abnormal hypoglossal canal morphology ( J:239583 )

DMDD

absent hypoglossal canal ( J:239583 )

DMDD

small hypoglossal canal ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal lens epithelium morphology ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

Genotype
MGI:5705945

ht2

• Allelic Composition: Actn4^{tm1a(EUCOMM)Wtsi}/Actn4⁺
• Genetic Background: C57BL/6N-Actn4^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0525_2_B12

Data Sources

IMPC Data for Actn4

cardiovascular system

increased heart weight ( J:211773 )

♂

IMPC - WTSI

growth/size/body

increased heart weight ( J:211773 )

♂

IMPC - WTSI

vision/eye

abnormal retina morphology ( J:211773 )

IMPC - WTSI