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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tuba1aquas
quasimodo
MGI:6506270
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tuba1aquas/Tuba1aquas involves: C57BL/6J MGI:6507153
ht2
Tuba1aem1Rstot/Tuba1aquas involves: C57BL/6J * C57BL/6N MGI:6507156


Genotype
MGI:6507153
hm1
Allelic
Composition
Tuba1aquas/Tuba1aquas
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tuba1aquas mutation (0 available); any Tuba1a mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• lateral ventriculomegaly
• reduced cortical tissue
• slight 21.5% increase in TBR2-positive intermediate progenitors at E16.5
• at E14.5 and E16.5
• in an EdU labeling study fewer cells labeled at E13.5 migrated to the upper third of the cortex by E14.5 and there is a corresponding increase in the number of cells in the middle third
• changes are more marker at E16.5, consistent with a decrease in radial migration of cells born at E13.5

skeleton
• thoracic curvature

cellular
• at E14.5 and E16.5
• in an EdU labeling study fewer cells labeled at E13.5 migrated to the upper third of the cortex by E14.5 and there is a corresponding increase in the number of cells in the middle third
• changes are more marker at E16.5, consistent with a decrease in radial migration of cells born at E13.5




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
• present at E17.5 but all are lost by weaning

nervous system
• lateral ventriculomegaly
• reduced cortical tissue

craniofacial

skeleton
• thoracic curvature

growth/size/body

digestive/alimentary system

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





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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
11/19/2024
MGI 6.24
The Jackson Laboratory