Phenotypes Associated with This Genotype

Genotype
MGI:5447068

• Allelic Composition: Tg(Neurod2-Smo*A2)#Jols/0
• Genetic Background: C57BL/6-Tg(Neurod2-Smo*A2)#Jols

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

nervous system

abnormal radial glial cell morphology ( J:189258 )

• radial glial cells in the cerebella exhibit disorganized, entangled glial processes at P5, P14 and P28

abnormal neuronal migration ( J:189258 )

• impaired migration of granule neuron precursors in the cerebellum

abnormal neuron proliferation ( J:189258 )

• increased granule neuron precursor proliferation at P5, P14 and P28

increased medulloblastoma incidence ( J:189258 )

• beginning at 2 months and increasing incidence with age

• develop in dysplastic milieu

hydrocephaly ( J:189258 )

• in some mice with medulloblastoma resulting in hunched posture or head tilt

abnormal cerebellum morphology ( J:189258 )

• severe malformations

• extended at P5

• extensive dysplasia with massive hypercellularity at P14

• dysplastic region contains normal progenitor cells and atypical cuboidal to spindle-shaped cells with indistinct cell borders and scant amount of eosinophilic fibrillar cytoplasm with irregular round to fusiform nuclei

• dysplastic at P28 with more mature cytoarchitecture than at P14 aberrant neuronal and glial organization

abnormal cerebellum development ( J:189258 )

• extended at P5

• ectopic progenitor-like cells in the adjacent parenchyma and along the pial surface

absent cerebellar foliation ( J:189258 )

abnormal cerebellum external granule cell layer morphology ( J:189258 )

• expanded at E15.5

• undefined at P5

• expanded at P14

ectopic Purkinje cell ( J:189258 )

• with disorganized, entangled glial processes at P5, P14 and P28

abnormal cerebellar granule cell morphology ( J:189258 )

• disorganized at P5 and P14

increased neuronal precursor cell number ( J:189258 )

• increased granule neuron precursors cells at P5

behavior/neurological

behavior/neurological phenotype ( J:189258 )

N • mice exhibit normal motor coordination

lethargy ( J:189258 )

• in mice with medulloblastoma

hunched posture ( J:189258 )

• in some mice with medulloblastoma due to hydrocephaly or nerve impingement

head tilt ( J:189258 )

• in some mice with medulloblastoma resulting in hunched posture or head tilt

decreased locomotor activity ( J:189258 )

neoplasm

neoplasm ( J:93861 )

N • mice rarely develop tumors

increased medulloblastoma incidence ( J:189258 )

• beginning at 2 months and increasing incidence with age

• develop in dysplastic milieu

craniofacial

abnormal head shape ( J:189258 )

• protruding head in mice with medulloblastoma

growth/size/body

abnormal head shape ( J:189258 )

• protruding head in mice with medulloblastoma

weight loss ( J:189258 )

• in mice with medulloblastoma

cellular

abnormal radial glial cell morphology ( J:189258 )

• radial glial cells in the cerebella exhibit disorganized, entangled glial processes at P5, P14 and P28

abnormal neuronal migration ( J:189258 )

• impaired migration of granule neuron precursors in the cerebellum

abnormal neuron proliferation ( J:189258 )

• increased granule neuron precursor proliferation at P5, P14 and P28

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:189258