About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Acvr2atm1Hsch
targeted mutation 1,Heinrich Schrewe
MGI:2179547
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Acvr2atm1Hsch/Acvr2atm1Hsch involves: 129S1/Sv * C57BL/6J MGI:3696941
cx2
Acvr2atm1Hsch/Acvr2atm1Hsch
Nodaltm1Rob/Nodal+
involves: 129S/SvEv * 129S1/Sv * C57BL/6J MGI:3696946
cx3
Acvr2atm1Hsch/Acvr2a+
Acvr2btm1Spo/Acvr2btm1Spo
involves: 129S1/Sv * 129S4/SvJae MGI:3697596
cx4
Acvr2atm1Hsch/Acvr2atm1Hsch
Acvr2btm1Enl/Acvr2btm1Enl
involves: 129S1/Sv * 129S4/SvJae * C57BL/6J MGI:3696942
cx5
Acvr2atm1Hsch/Acvr2atm1Hsch
Acvr2btm1Enl/Acvr2b+
involves: 129S1/Sv * 129S4/SvJae * C57BL/6J MGI:3696943
cx6
Acvr2atm1Hsch/Acvr2a+
Acvr2btm1Enl/Acvr2btm1Enl
involves: 129S1/Sv * 129S4/SvJae * C57BL/6J MGI:3696945
cx7
Acvr2atm1Hsch/Acvr2a+
Acvr2btm1.1Spo/Acvr2btm1.1Spo
involves: 129S1/Sv * 129S4/SvJae * FVB/N MGI:3697597
cx8
Acvr2atm1Hsch/Acvr2atm1Hsch
Acvr2btm1.1Spo/Acvr2btm1.1Spo
involves: 129S1/Sv * 129S4/SvJae * FVB/N MGI:3697598


Genotype
MGI:3696941
hm1
Allelic
Composition
Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation (0 available); any Acvr2a mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 15% show mid-gestation lethality

embryo
• about 15% show severe gastrulation defects

craniofacial
• low frequency of mandible hypoplasia

endocrine/exocrine glands
• delay in maturation of the testes

reproductive system
• delay in maturation of the testes
• partial sterility of females

skeleton
• low frequency of mandible hypoplasia

vision/eye
• low frequency of mild cyclopia




Genotype
MGI:3696946
cx2
Allelic
Composition
Acvr2atm1Hsch/Acvr2atm1Hsch
Nodaltm1Rob/Nodal+
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation (0 available); any Acvr2a mutation (19 available)
Nodaltm1Rob mutation (3 available); any Nodal mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryonic lethality although time not specified

embryo
• over 60% show gastrulation defects

nervous system
• 4 of 13 embryos that developed beyond gastrulation have a reduced forebrain

vision/eye
• 6 of 8 newborns display cyclopia

growth/size/body
• 6 of 8 newborns show truncation of rostral head structures




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 (19 available)
Acvr2btm1Spo mutation (0 available); any Acvr2b mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• 100% penetrance of vertebral transformation of the 21st vertebra into the 14th thoracic vertebra

embryo
• 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




Genotype
MGI:3696942
cx4
Allelic
Composition
Acvr2atm1Hsch/Acvr2atm1Hsch
Acvr2btm1Enl/Acvr2btm1Enl
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation (0 available); any Acvr2a mutation (19 available)
Acvr2btm1Enl mutation (0 available); any Acvr2b mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die before or during gastrulation and are resorbed by E8.5

embryo
• cell death is seen in the epiblast of some embryos
• embryos are growth arrested at the early egg cylinder stage
• do not form mesoderm
• exhibit a constriction at the embryonic and extraembryonic junction and the separation of the visceral endoderm and the epiblast

cellular
• cell death is seen in the epiblast of some embryos




Genotype
MGI:3696943
cx5
Allelic
Composition
Acvr2atm1Hsch/Acvr2atm1Hsch
Acvr2btm1Enl/Acvr2b+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation (0 available); any Acvr2a mutation (19 available)
Acvr2btm1Enl mutation (0 available); any Acvr2b mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die before or during gastrulation; by E9.5, embryos are partially or completely degenerated

embryo
• gastrulation is initiated but severely impaired subsequently
• severe gastrulation defects ranging from the lack of discernible embryonic axes to the formation or relatively normal axial and paraxial structures
• formation of the embryonic mesoderm is severely impaired
• exhibit defects in anterior patterning as indicated by marker expression
• the few embryos that are able to undergo relatively normal gastrulation, exhibit abnormal anterior neural development
• almost all embryos with gastrulation defects do not form the head-fold structure
• often show a constriction at the embryonic and extraembryonic junction, leading to the protrusion of embryos outside the yolk sac at E8.5
• primitive streak elongation is disrupted
• absent in most mutants
• absent in most mutants

cardiovascular system
• almost all embryos with gastrulation defects do not form a primitive heart




Genotype
MGI:3696945
cx6
Allelic
Composition
Acvr2atm1Hsch/Acvr2a+
Acvr2btm1Enl/Acvr2btm1Enl
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation (0 available); any Acvr2a mutation (19 available)
Acvr2btm1Enl mutation (0 available); any Acvr2b mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die late in development or shortly after birth




Genotype
MGI:3697597
cx7
Allelic
Composition
Acvr2atm1Hsch/Acvr2a+
Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation (0 available); any Acvr2a mutation (19 available)
Acvr2btm1.1Spo mutation (0 available); any Acvr2b mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• 6 of 16 exhibit transformation of the 21st vertebra into the 14th thoracic vertebra

embryo
• 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




Genotype
MGI:3697598
cx8
Allelic
Composition
Acvr2atm1Hsch/Acvr2atm1Hsch
Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation (0 available); any Acvr2a mutation (19 available)
Acvr2btm1.1Spo mutation (0 available); any Acvr2b mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo
• development is arrested at the gastrulation stage (E8.5)
• the embryonic tissues grow outside of the yolk sac
• exhibit constrictions at the junction between the extraembryonic and embryonic regions at E7.5





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/12/2016
MGI 6.04
The Jackson Laboratory