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Phenotypes Associated with This Genotype
Genotype
MGI:3831003
Allelic
Composition
Tg(Neurod2-Smo*A1)199Jols/0
Genetic
Background
C57BL/6-Tg(Neurod2-Smo*A1)199Jols
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Neurod2-Smo*A1)199Jols mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• medulloblastoma progresses rapidly, requiring sacrifice of affected animals within 1 to 14 days of tumor onset

neoplasm
• mice expressing high levels of Smoothened with the A1 point mutation develop medulloblastoma with an incidence of 48% at a median age of 25.7 weeks
• mice expressing Smoothened with the A2 point mutation rarely develop tumors due to low levels of transgene expression
• inhibition of Notch signaling with DAPT results in a decrease in viable cell number within tumors by 48 hours of treatment

nervous system
• mice expressing high levels of Smoothened with the A1 point mutation develop medulloblastoma with an incidence of 48% at a median age of 25.7 weeks
• mice expressing Smoothened with the A2 point mutation rarely develop tumors due to low levels of transgene expression
• inhibition of Notch signaling with DAPT results in a decrease in viable cell number within tumors by 48 hours of treatment
• about 80% of 8-week-old mice display extensive granule cell proliferation compared to nontransgenic controls
• infrequent leptomeningeal spreading tumors are observed in hemizygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
medulloblastoma DOID:0050902 OMIM:155255
J:93861


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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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory