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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Acvr1btm1Enl
targeted mutation 1, En Li
MGI:1857710
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Acvr1btm1Enl/Acvr1btm1Enl either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6) MGI:2654110
cx2
Acvr1btm1Enl/Acvr1b+
Acvr1ctm1Cfi/Acvr1ctm1Cfi
involves: 129P2/OlaHsd * 129/Sv MGI:3512304
cx3
Acvr1btm1Enl/Acvr1b+
Gdf1tm1Sjl/Gdf1tm1Sjl
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 MGI:3625854
cx4
Acvr1btm1Enl/Acvr1b+
Gdf1tm1Sjl/Gdf1+
Nodaltm1Rob/Nodal+
involves: 129/Sv * C57BL/6 MGI:3625853


Genotype
MGI:2654110
hm1
Allelic
Composition
Acvr1btm1Enl/Acvr1btm1Enl
Genetic
Background
either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1btm1Enl mutation (0 available); any Acvr1b mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at E8.5, about 25% of decidua contain abnormal conceptuses in which the embryos are either very small or completely resorbed
• no homozygous embryos are recovered at, or after, E9.5

cellular
• homozygous null ES cells injected into wild-type blastocysts are capable of forming mesoderm in chimeric embryos; however, primitive streak formation is impaired
• wild-type ES cells injected into homozygous null blastocysts form relatively normal extraembryonic tissues and extraembryonic mesoderm; however, the embryo proper develops poorly, suggesting a severe gastrulation defect

embryo
• expression of Brachyury (T), an early mesoderm marker, is absent at E7.5 and E8.5, suggesting that developmental arrest occurs before gastrulation
• at E6.5, the epiblast of some embryos is hypoplastic and often located ectopically
• molecular marker analysis of prestreak stage embryos confirmed that the visceral endoderm fails to form the squamous cell type in the distal region of the egg cylinder
• at E7.5, mutant embryos contain no mesoderm
• at E7.5, 12 out of 38 homozygous null embryos appear smaller and lack a discernible primitive streak
• at E6.5, the extraembryonic ectoderm cells fail to form an epithelial layer and often intrude into the distal region
• at E6.5, the epiblast and the extraembryonic ectoderm appear to be intertwined and disorganized
• at E8.5, the visceral endoderm layer is folded, possibly as a result of extensive cell death and shrinkage of the ectoderm
• no morphological defects are noted in the trophoblast or parietal endoderm throughout early development
• at E5.5, in ~22% of mutant embryos, the distal visceral endoderm cells are slightly more vacuolated and detached from the epiblast




Genotype
MGI:3512304
cx2
Allelic
Composition
Acvr1btm1Enl/Acvr1b+
Acvr1ctm1Cfi/Acvr1ctm1Cfi
Genetic
Background
involves: 129P2/OlaHsd * 129/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1btm1Enl mutation (0 available); any Acvr1b mutation (37 available)
Acvr1ctm1Cfi mutation (1 available); any Acvr1c mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• expected numbers of compound mutants are detected at weaning




Genotype
MGI:3625854
cx3
Allelic
Composition
Acvr1btm1Enl/Acvr1b+
Gdf1tm1Sjl/Gdf1tm1Sjl
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1btm1Enl mutation (0 available); any Acvr1b mutation (37 available)
Gdf1tm1Sjl mutation (1 available); any Gdf1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• anterior truncations seen in 3 of 9 mutants
• ecreased expression of Foxa2 in the anterior primitive streak in all mutants and decreased expression of T in the axial mesoderm in 30% of mutants

nervous system
• in 3 of 9 mutants




Genotype
MGI:3625853
cx4
Allelic
Composition
Acvr1btm1Enl/Acvr1b+
Gdf1tm1Sjl/Gdf1+
Nodaltm1Rob/Nodal+
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1btm1Enl mutation (0 available); any Acvr1b mutation (37 available)
Gdf1tm1Sjl mutation (1 available); any Gdf1 mutation (8 available)
Nodaltm1Rob mutation (2 available); any Nodal mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 3 of 19 mutants have a single forebrain vesicle

respiratory system
• 3 of 19 mutants have a fused nasal cavity

craniofacial
• 3 of 19 mutants have a fused nasal cavity

growth/size/body
• 3 of 19 mutants have a fused nasal cavity





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last database update
10/09/2024
MGI 6.24
The Jackson Laboratory