Phenotypes associated with this allele

• Allele Symbol: Acvr2b^tm1Spo
• Allele Name: targeted mutation 1, S Paul Oh
• Allele ID: MGI:3690298
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Acvr2b^tm1Spo/Acvr2b^tm1Spo	involves: 129S4/SvJae	MGI:3697593
hm2	Acvr2b^tm1Spo/Acvr2b^tm1Spo	involves: 129S4/SvJae * C57BL/6J	MGI:3697592
cx3	Acvr2a^tm1Hsch/Acvr2a^+ Acvr2b^tm1Spo/Acvr2b^tm1Spo	involves: 129S1/Sv * 129S4/SvJae	MGI:3697596

Genotype
MGI:3697593

hm1

• Allelic Composition: Acvr2b^tm1Spo/Acvr2b^tm1Spo
• Genetic Background: involves: 129S4/SvJae

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

skeleton

vertebral transformation ( J:114533 )

• Background Sensitivity: exhibit a mild form of anterior vertebral transformations that are more severe on a 129 background than on a mixed 129 and C57BL/6J background

lumbar vertebral transformation ( J:114533 )

• in all mutants, the 21st vertebra is transformed into the 14th thoracic vertebra

embryo

abnormal left-right axis patterning ( J:114533 )

• Background Sensitivity: exhibit an increase in penetrance of LR-asymmetry defects on the 129 background compared to a mixed 129 and C57BL/6J background

cardiovascular system

transposition of great arteries ( J:114533 )

• Background Sensitivity: increase in penetrance on the 129 background compared to a mixed 129 and C57BL/6J background

respiratory system

right pulmonary isomerism ( J:114533 )

• Background Sensitivity: increase in penetrance on the 129 background compared to a mixed 129 and C57BL/6J background

growth/size/body

right pulmonary isomerism ( J:114533 )

• Background Sensitivity: increase in penetrance on the 129 background compared to a mixed 129 and C57BL/6J background

Genotype
MGI:3697592

hm2

• Allelic Composition: Acvr2b^tm1Spo/Acvr2b^tm1Spo
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

skeleton

vertebral transformation ( J:114533 )

• Background Sensitivity: 22 of 25 exhibit a mild form of anterior vertebral transformations that are less severe on the mixed 129 and C57BL/6J background than on a 129 background

lumbar vertebral transformation ( J:114533 )

• in most mutants, the 21st vertebra (the first lumbar vertebra) is transformed into the 14th thoracic vertebra

embryo

abnormal left-right axis patterning ( J:114533 )

• Background Sensitivity: only 1 of 25 exhibit defects associated with LR-asymmetry on the mixed background, a lower penetrance compared to that seen on a 129 background

Genotype
MGI:3697596

cx3

• Allelic Composition: Acvr2a^tm1Hsch/Acvr2a⁺; Acvr2b^tm1Spo/Acvr2b^tm1Spo
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae

skeleton

lumbar vertebral transformation ( J:114533 )

• 100% penetrance of vertebral transformation of the 21st vertebra into the 14th thoracic vertebra

embryo

abnormal left-right axis patterning ( J:114533 )

• 12 of 13 show effects associated with left-right asymmetry such as right pulmonary isomerism and transposition of great arteries

cardiovascular system

transposition of great arteries ( J:114533 )

respiratory system

right pulmonary isomerism ( J:114533 )

growth/size/body

right pulmonary isomerism ( J:114533 )