Mouse Genome Informatics
hm1
    Acvr2atm1Hsch/Acvr2atm1Hsch
involves: 129S1/Sv * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• about 15% show mid-gestation lethality

embryogenesis
• about 15% show severe gastrulation defects

craniofacial
• low frequency of mandible hypoplasia

endocrine/exocrine glands
• delay in maturation of the testes (J:57262)

reproductive system
• delay in maturation of the testes (J:57262)
• partial sterility of females (J:57262)

skeleton
• low frequency of mandible hypoplasia

vision/eye
• low frequency of mild cyclopia


Mouse Genome Informatics
cx2
    Acvr2atm1Hsch/Acvr2atm1Hsch
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129S1/Sv * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryonic lethality although time not specified

embryogenesis
• 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


Mouse Genome Informatics
cx3
    Acvr2atm1Hsch/Acvr2a+
Acvr2btm1Spo/Acvr2btm1Spo

involves: 129S1/Sv * 129S4/SvJae
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• 100% penetrance of vertebral transformation of the 21st vertebra into the 14th thoracic vertebra

embryogenesis
• 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


Mouse Genome Informatics
cx4
    Acvr2atm1Hsch/Acvr2atm1Hsch
Acvr2btm1Enl/Acvr2btm1Enl

involves: 129S1/Sv * 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die before or during gastrulation and are resorbed by E8.5

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

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


Mouse Genome Informatics
cx5
    Acvr2atm1Hsch/Acvr2atm1Hsch
Acvr2btm1Enl/Acvr2b+

involves: 129S1/Sv * 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die before or during gastrulation; by E9.5, embryos are partially or completely degenerated

embryogenesis
• 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
• primitive streak elongation is disrupted
• 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
• absent in most mutants
• absent in most mutants

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


Mouse Genome Informatics
cx6
    Acvr2atm1Hsch/Acvr2a+
Acvr2btm1Enl/Acvr2btm1Enl

involves: 129S1/Sv * 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die late in development or shortly after birth


Mouse Genome Informatics
cx7
    Acvr2atm1Hsch/Acvr2a+
Acvr2btm1.1Spo/Acvr2btm1.1Spo

involves: 129S1/Sv * 129S4/SvJae * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• 6 of 16 exhibit transformation of the 21st vertebra into the 14th thoracic vertebra

embryogenesis
• 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


Mouse Genome Informatics
cx8
    Acvr2atm1Hsch/Acvr2atm1Hsch
Acvr2btm1.1Spo/Acvr2btm1.1Spo

involves: 129S1/Sv * 129S4/SvJae * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

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