Phenotypes associated with this allele

• Allele Symbol: Twsg1^tm1Emdr
• Allele Name: targeted mutation 1, E M De Robertis
• Allele ID: MGI:3044357
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Twsg1^tm1Emdr/Twsg1^tm1Emdr	involves: 129 * C57BL/6 * SJL	MGI:3818264
hm2	Twsg1^tm1Emdr/Twsg1^tm1Emdr	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3044665
cx3	Bmper^tm1Emdr/Bmper^tm1Emdr Twsg1^tm1Emdr/Twsg1^tm1Emdr	involves: 129 * C57BL/6 * SJL	MGI:3818263
cx4	Bmper^tm1Emdr/Bmper^+ Twsg1^tm1Emdr/Twsg1^tm1Emdr	involves: 129 * C57BL/6 * SJL	MGI:3818271
cx5	Bmp4^tm1Blh/Bmp4^+ Twsg1^tm1Emdr/Twsg1^tm1Emdr	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 * SJL	MGI:3044666

Genotype
MGI:3818264

hm1

• Allelic Composition: Twsg1^tm1Emdr/Twsg1^tm1Emdr
• Genetic Background: involves: 129 * C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

prenatal lethality, incomplete penetrance ( J:141243 )

• slightly fewer than expected mice are present at birth

Genotype
MGI:3044665

hm2

• Allelic Composition: Twsg1^tm1Emdr/Twsg1^tm1Emdr
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:90398 )

• weight was 10-20% less than normal littermates

limbs/digits/tail

abnormal tail morphology ( J:90398 )

abnormal caudal vertebrae morphology ( J:90398 )

• 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

short tail ( J:90398 )

kinked tail ( J:90398 )

• 80% of homozygotes with multiple kinks

skeleton

abnormal caudal vertebrae morphology ( J:90398 )

• 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 intervertebral disk development ( J:90398 )

• abnormal development and increased intervertebral tissue

abnormal vertebral arch development ( J:90398 )

• defective development, often fail to close

embryo

persistence of notochord tissue ( J:90398 )

• notochordal cells are not resorbed

Genotype
MGI:3818263

cx3

• Allelic Composition: Bmper^tm1Emdr/Bmper^tm1Emdr; Twsg1^tm1Emdr/Twsg1^tm1Emdr
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:141243 )

N • more mice than expected are born and mice do not die at birth unlike Bmper^tm1Emdr homozygotes

skeleton

skeleton phenotype ( J:141243 )

N • mice exhibit normal tracheal rings, humerus morphology, skull, neural arches and number of ribs

abnormal vertebral column morphology ( J:141243 )

• mice lack spinal column ossification centers

Genotype
MGI:3818271

cx4

• Allelic Composition: Bmper^tm1Emdr/Bmper⁺; Twsg1^tm1Emdr/Twsg1^tm1Emdr
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

prenatal lethality, incomplete penetrance ( J:141243 )

• slightly fewer than expected mice are present at birth

Genotype
MGI:3044666

cx5

• Allelic Composition: Bmp4^tm1Blh/Bmp4⁺; Twsg1^tm1Emdr/Twsg1^tm1Emdr
• Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 * SJL

craniofacial

abnormal craniofacial morphology ( J:90398 )

• severe head malformations with 64% penetrance

• phenotype similar in newborns and at E15.5

absent mandible ( J:90398 )

abnormal mouth morphology ( J:90398 )

absent tongue ( J:90398 )

oral atresia ( J:90398 )

abnormal nose morphology ( J:90398 )

single external naris ( J:90398 )

• single nostril

absent nasal septum ( J:90398 )

lowered ear position ( J:90398 )

• low "implantation" of external ears

hearing/vestibular/ear

lowered ear position ( J:90398 )

• low "implantation" of external ears

limbs/digits/tail

abnormal tail morphology ( J:90398 )

abnormal caudal vertebrae morphology ( J:90398 )

• 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

short tail ( J:90398 )

kinked tail ( J:90398 )

• 80% of homozygotes with multiple kinks

respiratory system

abnormal nose morphology ( J:90398 )

single external naris ( J:90398 )

• single nostril

absent nasal septum ( J:90398 )

skeleton

absent mandible ( J:90398 )

abnormal caudal vertebrae morphology ( J:90398 )

• 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

abnormal lens induction ( J:90398 )

• lens did not develop

abnormal retina morphology ( J:90398 )

• retina did not develop

anophthalmia ( J:90398 )

nervous system

holoprosencephaly ( J:90398 )

• single cavity, lack of ventricle medial wall (holoprosencephaly)

abnormal forebrain morphology ( J:90398 )

• malformed prosencephalon

abnormal diencephalon morphology ( J:90398 )

• thickened basal diencephalons at the level of the hypothalamus

abnormal lateral ganglionic eminence morphology ( J:90398 )

• lateral ganglionic eminence is missing

digestive/alimentary system

absent tongue ( J:90398 )

growth/size/body

abnormal mouth morphology ( J:90398 )

absent tongue ( J:90398 )

oral atresia ( J:90398 )

abnormal nose morphology ( J:90398 )

single external naris ( J:90398 )

• single nostril

absent nasal septum ( J:90398 )

lowered ear position ( J:90398 )

• low "implantation" of external ears