Phenotypes associated with this allele

• Allele Symbol: Setd5⁺
• Allele Name: wild type
• Allele ID: MGI:3613718
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Setd5^tm1a(EUCOMM)Wtsi/Setd5^+	C57BL/6N-Setd5^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5706088
cn2	Setd5^tm1c(EUCOMM)Wtsi/Setd5^+ Tbx1^tm1Bld/Tbx1^+ Tmem163^Tg(ACTB-cre)2Mrt/Tmem163^+	involves: 129S7/SvEvBrd * C57BL/6 * FVB/N	MGI:7543763
cn3	Setd5^tm1c(EUCOMM)Wtsi/Setd5^+ Mesp1^tm2(cre)Ysa/Mesp1^+	involves: C57BL/6N * C57BL/6NCrlj * CBA/JNCrlj	MGI:7543767
cn4	Setd5^tm1c(EUCOMM)Wtsi/Setd5^+ Tmem163^Tg(ACTB-cre)2Mrt/Tmem163^+	involves: C57BL/6N * FVB/N	MGI:7543762

Genotype
MGI:5706088

ht1

• Allelic Composition: Setd5^{tm1a(EUCOMM)Wtsi}/Setd5⁺
• Genetic Background: C57BL/6N-Setd5^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0036_3_F05

Data Sources

IMPC Data for Setd5

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

behavior/neurological

absent pinna reflex ( J:211773 )

♀

IMPC - WTSI

decreased grip strength ( J:211773 )

IMPC - WTSI

cardiovascular system

persistent right dorsal aorta ( J:239583 )

DMDD

right aortic arch ( J:239583 )

DMDD

absent brachiocephalic trunk ( J:239583 )

DMDD

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

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

abnormal vertebral artery topology ( J:239583 )

DMDD

dilated liver sinusoidal space ( J:239583 )

DMDD

abnormal vitelline vein connection ( J:239583 )

DMDD

abnormal vitelline vein topology ( J:239583 )

DMDD

symmetric azygos veins ( J:239583 )

DMDD

abnormal ductus venosus topology ( J:239583 )

DMDD

abnormal ductus venosus valve topology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

ductus venosus stenosis ( J:239583 )

DMDD

abnormal hepatic portal vein connection ( J:239583 )

DMDD

dilated hepatic portal vein ( J:239583 )

DMDD

enlarged orbital veins ( J:239583 )

DMDD

enlarged paraumbilical vein ( J:239583 )

DMDD

dual inferior vena cava ( J:239583 )

DMDD

abnormal superior vena cava morphology ( J:239583 )

DMDD

absent pectinate muscle ( J:239583 )

DMDD

persistent truncus arteriosus ( J:239583 )

DMDD

abnormal coronary sinus morphology ( J:239583 )

DMDD

double outlet right ventricle ( J:239583 )

DMDD

double inlet heart left ventricle ( J:239583 )

DMDD

atrial septal defect ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 )

DMDD

abnormal aortic valve cusp morphology ( J:239583 )

DMDD

bicuspid aortic valve ( J:239583 )

DMDD

craniofacial

abnormal cranium morphology ( J:211773 )

♂

IMPC - WTSI

abnormal tooth morphology ( J:211773 )

♂

IMPC - WTSI

abnormal incisor morphology ( J:211773 )

IMPC - WTSI

abnormal maxilla morphology ( J:211773 )

♂

IMPC - WTSI

abnormal snout morphology ( J:211773 )

♂

IMPC - WTSI

digestive/alimentary system

intraembryonal intestine elongation ( J:239583 )

DMDD

embryo

abnormal vitelline vein connection ( J:239583 )

DMDD

abnormal vitelline vein topology ( J:239583 )

DMDD

endocrine/exocrine glands

abnormal pineal gland morphology ( J:239583 )

DMDD

abnormal thymus morphology ( J:239583 )

DMDD

small thymus ( J:239583 )

DMDD

small thyroid gland ( J:239583 )

DMDD

growth/size/body

abnormal tooth morphology ( J:211773 )

♂

IMPC - WTSI

abnormal incisor morphology ( J:211773 )

IMPC - WTSI

abnormal maxilla morphology ( J:211773 )

♂

IMPC - WTSI

abnormal snout morphology ( J:211773 )

♂

IMPC - WTSI

fetal growth retardation ( J:239583 )

DMDD

hearing/vestibular/ear

abnormal auditory brainstem response ( J:211773 )

IMPC - WTSI

hematopoietic system

abnormal thymus morphology ( J:239583 )

DMDD

small thymus ( J:239583 )

DMDD

increased regulatory T cell number ( J:211773 )

♀

IMPC - WTSI

increased monocyte cell number ( J:211773 )

♀

IMPC - WTSI

homeostasis/metabolism

decreased circulating glucose level ( J:211773 )

IMPC - WTSI

subcutaneous edema ( J:239583 )

DMDD

immune system

abnormal thymus morphology ( J:239583 )

DMDD

small thymus ( J:239583 )

DMDD

increased regulatory T cell number ( J:211773 )

♀

IMPC - WTSI

increased monocyte cell number ( J:211773 )

♀

IMPC - WTSI

enlarged lymphatic vessel ( J:239583 )

DMDD

blood in lymph vessels ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

abnormal coat/hair pigmentation ( J:211773 )

♀

IMPC - WTSI

liver/biliary system

dilated liver sinusoidal space ( J:239583 )

DMDD

muscle

absent pectinate muscle ( J:239583 )

DMDD

abnormal eye muscle morphology ( J:239583 )

DMDD

nervous system

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

DMDD

absent segment of posterior cerebral artery ( J:239583 )

DMDD

small superior cervical ganglion ( J:239583 )

DMDD

reduced sympathetic cervical ganglion size ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

abnormal pineal gland morphology ( J:239583 )

DMDD

abnormal olfactory bulb morphology ( J:239583 )

DMDD

abnormal hindbrain morphology ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

pigmentation

abnormal coat/hair pigmentation ( J:211773 )

♀

IMPC - WTSI

renal/urinary system

small kidney ( J:239583 )

DMDD

skeleton

abnormal cranium morphology ( J:211773 )

♂

IMPC - WTSI

abnormal tooth morphology ( J:211773 )

♂

IMPC - WTSI

abnormal incisor morphology ( J:211773 )

IMPC - WTSI

abnormal maxilla morphology ( J:211773 )

♂

IMPC - WTSI

abnormal cervical rib ( J:239583 )

DMDD

vertebral fusion ( J:211773 )

♂

IMPC - WTSI

fusion of vertebral arches ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

abnormal optic stalk morphology ( J:239583 )

DMDD

Genotype
MGI:7543763

cn2

• Allelic Composition: Setd5^{tm1c(EUCOMM)Wtsi}/Setd5⁺; Tbx1^tm1Bld/Tbx1⁺; Tmem163^{Tg(ACTB-cre)2Mrt}/Tmem163⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB/N

mortality/aging

mortality/aging ( J:314464 )

N • double heterozygotes are recovered at normal Mendelian ratios at E14.5

cardiovascular system

abnormal right subclavian artery morphology ( J:314464 )

• at E14.5, 21% of double heterozygotes exhibit an aberrant right subclavian artery

abnormal cardiac outflow tract development ( J:314464 )

• at E14.5, 57% of double heterozygotes show OFT rotational defects, including DORV and overriding aorta

• however, no common arterial trunk is identified at E14.5

double outlet right ventricle ( J:314464 )

overriding aortic valve ( J:314464 )

perimembraneous ventricular septal defect ( J:314464 )

• at E14.5, 86% of double heterozygotes exhibit a perimembranous VSD

Genotype
MGI:7543767

cn3

• Allelic Composition: Setd5^{tm1c(EUCOMM)Wtsi}/Setd5⁺; Mesp1^tm2(cre)Ysa/Mesp1⁺
• Genetic Background: involves: C57BL/6N * C57BL/6NCrlj * CBA/JNCrlj

cardiovascular system

dilated heart ventricle ( J:314464 )

• at E10.5, one of 6 (17%) hearts show abnormal ventricular ballooning

• however, no OFT phenotype or abnormal atrial ballooning is observed

Genotype
MGI:7543762

cn4

• Allelic Composition: Setd5^{tm1c(EUCOMM)Wtsi}/Setd5⁺; Tmem163^{Tg(ACTB-cre)2Mrt}/Tmem163⁺
• Genetic Background: involves: C57BL/6N * FVB/N

cardiovascular system

abnormal cardiac outflow tract development ( J:314464 )

• at E14.5, 50% of heterozygotes show outflow tract (OFT) rotational defects (OFT fails to align with the two future ventricles at the looping stage), including DORV and overriding aorta

• however, OFT septation is normal; no aberrant right subclavian artery or common arterial trunk are identified at E14.5

double outlet right ventricle ( J:314464 )

• at E14.5

overriding aortic valve ( J:314464 )

• at E14.5

perimembraneous ventricular septal defect ( J:314464 )

• at E14.5, 75% of heterozygotes exhibit a perimembranous VSD