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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Bmpertm1Emdr
targeted mutation 1, E M de Robertis
MGI:3711028
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Bmpertm1Emdr/Bmpertm1Emdr B6SJL-Bmpertm1Emdr MGI:3711063
cx2
 		Bmpertm1Emdr/Bmpertm1Emdr
Chrdtm1Emdr/Chrdtm1Emdr 		involves: 129 * C57BL/6 * SJL MGI:3818262
cx3
 		Bmpertm1Emdr/Bmpertm1Emdr
Twsg1tm1Emdr/Twsg1tm1Emdr 		involves: 129 * C57BL/6 * SJL MGI:3818263
cx4
 		Bmpertm1Emdr/Bmper+
Twsg1tm1Emdr/Twsg1tm1Emdr 		involves: 129 * C57BL/6 * SJL MGI:3818271


Genotype
MGI:3711063
hm1
Allelic
Composition		 Bmpertm1Emdr/Bmpertm1Emdr
Genetic
Background		 B6SJL-Bmpertm1Emdr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpertm1Emdr mutation (1 available); any Bmper mutation (47 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:121684 , J:141243 )
• mice die at birth (J:121684)
• mice die at birth of respiratory failure (J:141243)

hearing/vestibular/ear
abnormal tympanic ring morphology ( J:141243 )
• reduced ossification

skeleton
abnormal skeleton morphology ( J:121684 , J:141243 )
• mice show extensive skeletal abnormalities (J:121684)
• all mice display skeletal abnormalities (J:141243)
• mice exhibit a reduction in the distance between the vertebral column and the manubrium of the sternum compared to in wild-type mice (J:141243)
abnormal basisphenoid bone morphology ( J:141243 )
• mice exhibit defective fusion of the basisphenoid bone
decreased rib number ( J:141243 )
• the thirteenth thoracic vertebrae displays a posterior homeotic transformation with loss of the thirteenth rib
abnormal vertebral column morphology ( J:141243 )
• mice lack spinal column ossification centers
thoracic vertebral transformation ( J:141243 )
• the thirteenth thoracic vertebrae displays a posterior homeotic transformation with loss of the thirteenth rib
abnormal vertebral arch morphology ( J:141243 )
• neural arches are small in size compared to in wild-type mice

limbs/digits/tail
short tail ( J:141243 )
• all mice

craniofacial
abnormal basisphenoid bone morphology ( J:141243 )
• mice exhibit defective fusion of the basisphenoid bone

respiratory system
abnormal trachea morphology ( J:141243 )
• mice exhibit a reduction in the lumen of the trachea compared to in wild-type mice
respiratory failure ( J:121684 , J:141243 )
• mice display respiratory failure at birth (J:121684)
• mice die at birth of respiratory failure (J:141243)

nervous system
exencephaly ( J:121684 , J:141243 )
• exhibited at low penetrance (J:121684)
• 25% of mice (J:141243)

vision/eye
microphthalmia ( J:121684 )
• exhibited at low penetrance




Genotype
MGI:3818262
cx2
Allelic
Composition		 Bmpertm1Emdr/Bmpertm1Emdr
Chrdtm1Emdr/Chrdtm1Emdr
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)
Chrdtm1Emdr mutation (1 available); any Chrd mutation (49 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
abnormal skeleton morphology ( J:141243 )
• mice exhibit the abnormalities observed in both Bmpertm1Emdr and Chrdtm1Emdr single homozygotes
decreased rib number ( J:141243 )
• the thirteenth thoracic vertebrae displays a posterior homeotic transformation with loss of the thirteenth rib
thoracic vertebral transformation ( J:141243 )
• the thirteenth thoracic vertebrae displays a posterior homeotic transformation with loss of the thirteenth rib
abnormal vertebral arch morphology ( J:141243 )
• some mice exhibit a weak recovery of neural arches in the lumbar region compared to in Bmpertm1Emdr homozygotes




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
mortality/aging ( J:141243 )
N
• more mice than expected are born and mice do not die at birth unlike Bmpertm1Emdr 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		 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
prenatal lethality, incomplete penetrance ( J:141243 )
• slightly fewer than expected mice are present at birth




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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory