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

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

mortality/aging

decreased tumor-free survival time ( J:93861 )

• medulloblastoma progresses rapidly, requiring sacrifice of affected animals within 1 to 14 days of tumor onset

neoplasm

increased medulloblastoma incidence ( J:93861 )

• 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

increased medulloblastoma incidence ( J:93861 )

• 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

increased cerebellar granule cell number ( J:93861 )

• about 80% of 8-week-old mice display extensive granule cell proliferation compared to nontransgenic controls

abnormal subarachnoid space morphology ( J:133312 )

• 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