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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tuba1aem1Rstot
endonuclease-mediated mutation 1, Rolf Stottmann
MGI:6506267
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tuba1aem1Rstot/Tuba1aem1Rstot involves: C57BL/6J * C57BL/6N MGI:6507151
ht2
 		Tuba1aem1Rstot/Tuba1aquas involves: C57BL/6J * C57BL/6N MGI:6507156


Genotype
MGI:6507151
hm1
Allelic
Composition		 Tuba1aem1Rstot/Tuba1aem1Rstot
Genetic
Background		 involves: C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tuba1aem1Rstot mutation (0 available); any Tuba1a mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
preweaning lethality, complete penetrance ( J:278765 )
• homozygotes are present at E18.5 but all are lost by weaning

nervous system
abnormal cortical intermediate zone morphology ( J:278765 )
• 50% reduction in size at E16.5
abnormal cortical plate morphology ( J:278765 )
• 30% reduction in the width at E16.5
abnormal third ventricle morphology ( J:278765 )
• widened base in posterior brain regions
abnormal basal ganglion morphology ( J:278765 )
• reduced basal ganglia
abnormal neuron physiology ( J:278765 )
• EdU labeling indicates a failure of neurons born at E13.5 to fully survive, differentiate and/or migrate towards the pial surface
increased neuronal precursor proliferation ( J:278765 )
• increase in the proportion of cells that re-enter the cell cycle at E13.5

homeostasis/metabolism
edema ( J:278765 )
• thoracic edema

cardiovascular system
hemorrhage ( J:278765 )
• hemorrhage in the cervical region extending towards the forelimbs

craniofacial
cleft palate ( J:278765 )
• in 3 of 11 embryos

skeleton
abnormal spine curvature ( J:278765 )
• thoracic curvature

cellular
increased neuronal precursor proliferation ( J:278765 )
• increase in the proportion of cells that re-enter the cell cycle at E13.5

growth/size/body
cleft palate ( J:278765 )
• in 3 of 11 embryos

digestive/alimentary system
cleft palate ( J:278765 )
• in 3 of 11 embryos

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
congenital nervous system abnormality DOID:2490 J:278765




Genotype
MGI:6507156
ht2
Allelic
Composition		 Tuba1aem1Rstot/Tuba1aquas
Genetic
Background		 involves: C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tuba1aem1Rstot mutation (0 available); any Tuba1a mutation (15 available)
Tuba1aquas mutation (0 available); any Tuba1a mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
preweaning lethality, complete penetrance ( J:278765 )
• present at E17.5 but all are lost by weaning

nervous system
enlarged lateral ventricles ( J:278765 )
• lateral ventriculomegaly
abnormal cerebral cortex morphology ( J:278765 )
• reduced cortical tissue

craniofacial

skeleton
abnormal spine curvature ( J:278765 )
• thoracic curvature

growth/size/body
cleft palate ( J:278765 )

digestive/alimentary system

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
congenital nervous system abnormality DOID:2490 J:278765




Contributing Projects:
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
11/12/2024
MGI 6.24 		The Jackson Laboratory