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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Twsg1tm1Emdr
targeted mutation 1, E M De Robertis
MGI:3044357
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Twsg1tm1Emdr/Twsg1tm1Emdr involves: 129 * C57BL/6 * SJL MGI:3818264
hm2
Twsg1tm1Emdr/Twsg1tm1Emdr involves: 129X1/SvJ * C57BL/6 * SJL MGI:3044665
cx3
Bmpertm1Emdr/Bmpertm1Emdr
Twsg1tm1Emdr/Twsg1tm1Emdr
involves: 129 * C57BL/6 * SJL MGI:3818263
cx4
Bmpertm1Emdr/Bmper+
Twsg1tm1Emdr/Twsg1tm1Emdr
involves: 129 * C57BL/6 * SJL MGI:3818271
cx5
Bmp4tm1Blh/Bmp4+
Twsg1tm1Emdr/Twsg1tm1Emdr
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 * SJL MGI:3044666


Genotype
MGI:3818264
hm1
Allelic
Composition
Twsg1tm1Emdr/Twsg1tm1Emdr
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twsg1tm1Emdr mutation (1 available); any Twsg1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• slightly fewer than expected mice are present at birth




Genotype
MGI:3044665
hm2
Allelic
Composition
Twsg1tm1Emdr/Twsg1tm1Emdr
Genetic
Background
involves: 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twsg1tm1Emdr mutation (1 available); any Twsg1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• weight was 10-20% less than normal littermates

limbs/digits/tail
• caudal vertebrae shorter than normal and bone is less dense
• 2 centers of ossification in tail vertebrae and asymmetrical growth leads to kinks
• by E15.5, vertebral bodies of tail were narrower and more rectangular, fewer differentiated chondrocytes
• 80% of homozygotes with multiple kinks

skeleton
• caudal vertebrae shorter than normal and bone is less dense
• 2 centers of ossification in tail vertebrae and asymmetrical growth leads to kinks
• by E15.5, vertebral bodies of tail were narrower and more rectangular, fewer differentiated chondrocytes
• abnormal development and increased intervertebral tissue
• defective development, often fail to close

embryo
• notochordal cells are not resorbed




Genotype
MGI:3818263
cx3
Allelic
Composition
Bmpertm1Emdr/Bmpertm1Emdr
Twsg1tm1Emdr/Twsg1tm1Emdr
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpertm1Emdr mutation (1 available); any Bmper mutation (47 available)
Twsg1tm1Emdr mutation (1 available); any Twsg1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• more mice than expected are born and mice do not die at birth unlike Bmpertm1Emdr homozygotes

skeleton
N
• mice exhibit normal tracheal rings, humerus morphology, skull, neural arches and number of ribs
• mice lack spinal column ossification centers




Genotype
MGI:3818271
cx4
Allelic
Composition
Bmpertm1Emdr/Bmper+
Twsg1tm1Emdr/Twsg1tm1Emdr
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpertm1Emdr mutation (1 available); any Bmper mutation (47 available)
Twsg1tm1Emdr mutation (1 available); any Twsg1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• slightly fewer than expected mice are present at birth




Genotype
MGI:3044666
cx5
Allelic
Composition
Bmp4tm1Blh/Bmp4+
Twsg1tm1Emdr/Twsg1tm1Emdr
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm1Blh mutation (2 available); any Bmp4 mutation (21 available)
Twsg1tm1Emdr mutation (1 available); any Twsg1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• severe head malformations with 64% penetrance
• phenotype similar in newborns and at E15.5
• single nostril
• low "implantation" of external ears

hearing/vestibular/ear
• low "implantation" of external ears

limbs/digits/tail
• caudal vertebrae shorter than normal and bone is less dense
• 2 centers of ossification in tail vertebrae and asymmetrical growth leads to kinks
• by E15.5, vertebral bodies of tail were narrower and more rectangular, fewer differentiated chondrocytes
• 80% of homozygotes with multiple kinks

respiratory system
• single nostril

skeleton
• caudal vertebrae shorter than normal and bone is less dense
• 2 centers of ossification in tail vertebrae and asymmetrical growth leads to kinks
• by E15.5, vertebral bodies of tail were narrower and more rectangular, fewer differentiated chondrocytes

vision/eye
• lens did not develop
• retina did not develop

nervous system
• single cavity, lack of ventricle medial wall (holoprosencephaly)
• malformed prosencephalon
• thickened basal diencephalons at the level of the hypothalamus
• lateral ganglionic eminence is missing

digestive/alimentary system

growth/size/body
• single nostril
• low "implantation" of external ears





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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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory