Phenotypes associated with this allele

• Allele Symbol: Elp1^tm1Id
• Allele Name: targeted mutation 1, Ioannis Dragatsis
• Allele ID: MGI:5297554
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Elp1^tm1Id/Elp1^tm1Id	involves: 129S1/Sv * C57BL/6	MGI:5297556

Genotype
MGI:5297556

hm1

• Allelic Composition: Elp1^tm1Id/Elp1^tm1Id
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

Cardiovascular and brain malformations in Elp1^tm1Id/Elp1^tm1Id and Elp1^tm1.1Id/Elp1^tm1.1Id embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:178070 )

• die between E10.5 and E11.5

embryo

abnormal vitelline vasculature morphology ( J:178070 )

• poorly vascularized at E10.5

absent second pharyngeal arch ( J:178070 )

• fails to develop at E10.5

embryonic growth retardation ( J:178070 )

• detectable at E8.5 and are about a day behind at E9.5 and E10.5

decreased embryo size ( J:178070 )

• at E9.5

absent lamina terminalis ( J:178070 )

• at E10.5 the lamina terminalis can not be identified

cardiovascular system

abnormal dorsal aorta morphology ( J:178070 )

• hypoplastic

abnormal cardinal vein morphology ( J:178070 )

• hypoplastic

abnormal vitelline vasculature morphology ( J:178070 )

• poorly vascularized at E10.5

abnormal cardiac outflow tract development ( J:178070 )

• misaligned at E10.5

abnormal heart development ( J:178070 )

• severe developmental defects at E10.5

• heart development does not progress further than and E8.5 like primitive heart

absent atrioventricular cushions ( J:178070 )

• lack endocardial cushions at E10.5

abnormal heart looping ( J:178070 )

• at E10.5

distended pericardium ( J:178070 )

• dilated at E10.5

pericardial effusion ( J:178070 )

• severe effusion at E11.5 accompanied by loss of heartbeat

absent heartbeat ( J:178070 )

• severe effusion at E11.5 accompanied by loss of heartbeat

nervous system

absent lamina terminalis ( J:178070 )

• at E10.5 the lamina terminalis can not be identified

abnormal brain development ( J:178070 )

• severe developmental defects at E10.5

• anterior development is particularly affected

• at E10.5 the diencephalon, midbrain and hindbrain regions resemble those in wild-type embryos at E9.25 - E9.5

abnormal forebrain development ( J:178070 )

abnormal telencephalon development ( J:178070 )

• development of the telencephalon is markedly compromised

• at E10.5 the telencephalic vesicle is poorly developed

integument

pallor ( J:178070 )

• embryos are pale at E10.5

growth/size/body

embryonic growth retardation ( J:178070 )

• detectable at E8.5 and are about a day behind at E9.5 and E10.5

decreased embryo size ( J:178070 )

• at E9.5

craniofacial

absent second pharyngeal arch ( J:178070 )

• fails to develop at E10.5

homeostasis/metabolism

pericardial effusion ( J:178070 )

• severe effusion at E11.5 accompanied by loss of heartbeat

vision/eye

absent optic vesicle ( J:178070 )

• at E10.5