Phenotypes associated with this allele

• Allele Symbol: Sufu^tm1Aeb
• Allele Name: targeted mutation 1, Allen E Bale
• Allele ID: MGI:3512046
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sufu^tm1Aeb/Sufu^tm1Aeb	either: 129S1/Sv-Sufu^tm1Aeb or (involves: 129S1/Sv * C57BL/6)	MGI:3606232
ht2	Sufu^tm1Aeb/Sufu^+	either: 129S1/Sv-Sufu^tm1Aeb or (involves: 129S1/Sv * C57BL/6)	MGI:3606233

Genotype
MGI:3606232

hm1

• Allelic Composition: Sufu^tm1Aeb/Sufu^tm1Aeb
• Genetic Background: either: 129S1/Sv-Sufu^tm1Aeb or (involves: 129S1/Sv * C57BL/6)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:101731 )

• do not survive past E10.5

embryo

abnormal developmental patterning ( J:101731 )

abnormal dorsal-ventral axis patterning ( J:101731 )

incomplete embryo turning ( J:101731 )

• by E9-9.5, fail to undergo embryo turning

abnormal left-right axis patterning ( J:101731 )

• abnormal heart looping indicates abnormal development of left-right asymmetry

embryonic growth retardation ( J:101731 )

• embryonic growth retardation is observed by E9-9.5 but not at E8.5

open neural tube ( J:101731 )

abnormal primitive node morphology ( J:101731 )

• abnormal node architecture at E7.75, ranging from mild changes in the shape of the node to irregular distribution of nodal cells

abnormal somite development ( J:101731 )

• observed by E9-9.5

nervous system

brain aneurysm ( J:101731 )

• 4 of 14 have aneurysms in the diencephalic hemispheres

intracranial hemorrhage ( J:101731 )

• 4 of 14 have hemorrhage in the diencephalic hemispheres

open neural tube ( J:101731 )

cardiovascular system

descending aorta dilation ( J:101731 )

• descending aorta is dilated

brain aneurysm ( J:101731 )

• 4 of 14 have aneurysms in the diencephalic hemispheres

abnormal myocardium layer morphology ( J:101731 )

• myocardium hyperplasia

abnormal direction of heart looping ( J:101731 )

• 4 of 13 have L-looped (leftward) hearts at E9.5-10.5 and one has indeterminate cardiac looping

intracranial hemorrhage ( J:101731 )

• 4 of 14 have hemorrhage in the diencephalic hemispheres

growth/size/body

embryonic growth retardation ( J:101731 )

• embryonic growth retardation is observed by E9-9.5 but not at E8.5

muscle

abnormal myocardium layer morphology ( J:101731 )

• myocardium hyperplasia

Genotype
MGI:3606233

ht2

• Allelic Composition: Sufu^tm1Aeb/Sufu⁺
• Genetic Background: either: 129S1/Sv-Sufu^tm1Aeb or (involves: 129S1/Sv * C57BL/6)

normal phenotype

no abnormal phenotype detected ( J:101731 )

• exhibit no obvious abnormalities, internal malformations or tumor predisposition