Phenotypes associated with this allele

• Allele Symbol: H13^{tm1b(KOMP)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:5637209
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	H13^tm1b(KOMP)Wtsi/H13^tm1b(KOMP)Wtsi	C57BL/6N-H13^tm1b(KOMP)Wtsi/Wtsi	MGI:5767684
ht2	H13^tm1b(KOMP)Wtsi/H13^+	C57BL/6N-H13^tm1b(KOMP)Wtsi/Wtsi	MGI:5797580

Genotype
MGI:5767684

hm1

• Allelic Composition: H13^{tm1b(KOMP)Wtsi}/H13^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-H13^{tm1b(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0867_5_D04

Data Sources

IMPC Data for H13

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

cardiovascular system

persistent dorsal ophthalmic artery ( J:239583 )

DMDD

retroesophageal right subclavian artery ( J:239583 )

DMDD

absent celiac artery ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal vertebral artery origin ( J:239583 )

DMDD

absent posterior communicating artery ( J:239583 )

DMDD

abnormal stapedial artery morphology ( J:239583 )

DMDD

abnormal stapedial artery topology ( J:239583 )

DMDD

absent stapedial artery ( J:239583 )

DMDD

abnormal liver vasculature morphology ( 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 vitelline vein topology ( J:239583 )

DMDD

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

abnormal hepatic vein morphology ( J:239583 )

DMDD

enlarged paraumbilical vein ( J:239583 )

DMDD

absent inferior vena cava ( J:239583 )

DMDD

double outlet right ventricle ( J:239583 )

DMDD

transposition of great arteries ( J:239583 )

DMDD

abnormal inferior vena cava valve morphology ( J:239583 )

DMDD

abnormal interatrial septum morphology ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 )

DMDD

abnormal pulmonary valve cusp morphology ( J:239583 )

DMDD

craniofacial

abnormal hypoglossal canal morphology ( J:239583 )

DMDD

absent hypoglossal canal ( J:239583 )

DMDD

abnormal styloid process morphology ( J:239583 )

DMDD

abnormal outer ear morphology ( J:239583 )

DMDD

digestive/alimentary system

abnormal intestine placement ( J:239583 )

DMDD

embryo

abnormal umbilical vein topology ( J:239583 )

DMDD

abnormal vitelline vein connection ( J:239583 )

DMDD

abnormal vitelline vein topology ( J:239583 )

DMDD

abnormal Mullerian duct morphology ( J:239583 )

DMDD

absent Mullerian ducts ( J:239583 )

DMDD

abnormal Wolffian duct morphology ( J:239583 )

DMDD

abnormal chorion morphology ( J:261316 )

• unpatterned chorion

abnormal placenta morphology ( J:261316 )

• branching morphology defect at E9.5

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

abnormal trophoblast giant cell morphology ( J:261316 )

• abnormal trophoblast giant cell size and morphology

endocrine/exocrine glands

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

abnormal thymus topology ( J:239583 )

DMDD

small thyroid gland ( J:239583 )

DMDD

abnormal pancreas topology ( J:239583 )

DMDD

growth/size/body

abnormal outer ear morphology ( J:239583 )

DMDD

thoracoschisis ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

left pulmonary isomerism ( J:239583 )

DMDD

situs inversus ( J:239583 )

DMDD

hearing/vestibular/ear

abnormal stapedial artery morphology ( J:239583 )

DMDD

abnormal stapedial artery topology ( J:239583 )

DMDD

absent stapedial artery ( J:239583 )

DMDD

abnormal outer ear morphology ( J:239583 )

DMDD

abnormal posterior semicircular canal morphology ( J:239583 )

DMDD

hematopoietic system

abnormal thymus topology ( J:239583 )

DMDD

homeostasis/metabolism

subcutaneous edema ( J:239583 )

DMDD

immune system

abnormal thymus topology ( J:239583 )

DMDD

blood in lymph vessels ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

limbs/digits/tail

abnormal tail morphology ( J:239583 )

DMDD

liver/biliary system

abnormal liver vasculature morphology ( J:239583 )

DMDD

dilated liver sinusoidal space ( 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

abnormal infrahyoid muscle morphology ( J:239583 )

DMDD

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

neoplasm

embryo tumor ( J:239583 )

DMDD

nervous system

abnormal nervous system morphology ( J:239583 )

DMDD

absent superior cervical ganglion ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

reduced sympathetic cervical ganglion size ( J:239583 )

DMDD

abnormal brain morphology ( J:239583 )

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

absent posterior communicating artery ( J:239583 )

DMDD

abnormal brain internal capsule morphology ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

abnormal forebrain development ( J:239583 )

DMDD

abnormal olfactory bulb morphology ( J:239583 )

DMDD

abnormal hindbrain morphology ( J:239583 )

DMDD

exencephaly ( J:239583 )

DMDD

abnormal brachial plexus formation ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

absent hypoglossal nerve ( J:239583 )

DMDD

thin hypoglossal nerve ( J:239583 )

DMDD

abnormal optic chiasm morphology ( J:239583 )

DMDD

fused dorsal root ganglion ( J:239583 )

DMDD

renal/urinary system

small kidney ( J:239583 )

DMDD

absent kidney ( J:239583 )

DMDD

respiratory system

left pulmonary isomerism ( J:239583 )

DMDD

abnormal infrahyoid muscle morphology ( J:239583 )

DMDD

abnormal infrahyoid muscle connection ( J:239583 )

DMDD

skeleton

abnormal hypoglossal canal morphology ( J:239583 )

DMDD

absent hypoglossal canal ( J:239583 )

DMDD

abnormal styloid process morphology ( J:239583 )

DMDD

decreased length of long bones ( J:239583 )

DMDD

abnormal rib morphology ( J:239583 )

DMDD

absent ribs ( J:239583 )

DMDD

abnormal vertebrae morphology ( J:239583 )

DMDD

abnormal cervical atlas morphology ( J:239583 )

DMDD

abnormal vertebral arch morphology ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal optic chiasm morphology ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

abnormal optic stalk morphology ( J:239583 )

DMDD

Genotype
MGI:5797580

ht2

• Allelic Composition: H13^{tm1b(KOMP)Wtsi}/H13⁺
• Genetic Background: C57BL/6N-H13^{tm1b(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0867_5_D04

Data Sources

IMPC Data for H13

craniofacial

abnormal snout morphology ( J:211773 )

IMPC - WTSI

growth/size/body

abnormal snout morphology ( J:211773 )

IMPC - WTSI

homeostasis/metabolism

decreased fasting circulating glucose level ( J:211773 )

♂

IMPC - WTSI

skeleton

increased bone mineral content ( J:211773 )

IMPC - WTSI