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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Acvr2btm1Spo
targeted mutation 1, S Paul Oh
MGI:3690298
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Acvr2btm1Spo/Acvr2btm1Spo involves: 129S4/SvJae MGI:3697593
hm2
 		Acvr2btm1Spo/Acvr2btm1Spo involves: 129S4/SvJae * C57BL/6J MGI:3697592
cx3
 		Acvr2atm1Hsch/Acvr2a+
Acvr2btm1Spo/Acvr2btm1Spo 		involves: 129S1/Sv * 129S4/SvJae MGI:3697596


Genotype
MGI:3697593
hm1
Allelic
Composition		 Acvr2btm1Spo/Acvr2btm1Spo
Genetic
Background		 involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2btm1Spo mutation (0 available); any Acvr2b mutation (27 available)
♀ 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		 Acvr2btm1Spo/Acvr2btm1Spo
Genetic
Background		 involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2btm1Spo mutation (0 available); any Acvr2b mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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		 Acvr2atm1Hsch/Acvr2a+
Acvr2btm1Spo/Acvr2btm1Spo
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation (0 available); any Acvr2a mutation (38 available)
Acvr2btm1Spo mutation (0 available); any Acvr2b mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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

respiratory system

growth/size/body
right pulmonary isomerism ( J:114533 )




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory