Phenotypes associated with this allele

• Allele Symbol: Kcnh2^tm1.1Hjd
• Allele Name: targeted mutation 1.1, Henry J Duff
• Allele ID: MGI:4417903
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kcnh2^tm1.1Hjd/Kcnh2^tm1.1Hjd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4417909

Genotype
MGI:4417909

hm1

• Allelic Composition: Kcnh2^tm1.1Hjd/Kcnh2^tm1.1Hjd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:155273 )

• normal at E9.0

• all dead at E11.5

growth/size/body

decreased embryo size ( J:155273 )

• significant size reduction by 20 somite stage

cardiovascular system

abnormal aortic sac morphology ( J:155273 )

• aortic sac is dilated and distorted

dilated aortic sac ( J:155273 )

abnormal cardiac outflow tract development ( J:155273 )

• poor development of the proximal parts of the outflow tract

• outflow tract distorted and continuous with the dilated aortic sac and first branchial artery

• sporadic apoptosis

abnormal heart morphology ( J:155273 )

abnormal heart development ( J:155273 )

• defective development of the bulbus cordis right ventricle

abnormal heart looping ( J:155273 )

• L-shaped heart at E9.5 rather than the expected "U" shaped heart

abnormal bulbus cordis morphology ( J:155273 )

• poorly developed bulbus cordis

pericardial effusion ( J:155273 )

• massive pericardial effusion at E9.5

abnormal cardiovascular system physiology ( J:155273 )

abnormal blood circulation ( J:155273 )

• no blood flow into or out of the heart even at times when the heartbeat is normal

irregular heartbeat ( J:155273 )

• irregular with abrupt pauses

• arrhythmia

muscle

abnormal muscle electrophysiology ( J:155273 )

• complete loss of I^kr tail currents in E9.5 cardiac myocytes

• cardiac myocytes have a more depolarized resting membrane potential than do controls

• abnormal Ca ion oscillations in E9.5 cardiac myocytes

embryo

abnormal first pharyngeal arch morphology ( J:155273 )

• the first branchial arch is dilated and distorted

small first pharyngeal arch ( J:155273 )

• hypoplasia of the first branchial arch

• apoptosis observed

decreased embryo size ( J:155273 )

• significant size reduction by 20 somite stage

craniofacial

abnormal craniofacial morphology ( J:155273 )

• apoptosis frequently observed in the craniofacial region of embryos

abnormal first pharyngeal arch morphology ( J:155273 )

• the first branchial arch is dilated and distorted

small first pharyngeal arch ( J:155273 )

• hypoplasia of the first branchial arch

• apoptosis observed

homeostasis/metabolism

pericardial effusion ( J:155273 )

• massive pericardial effusion at E9.5