Phenotypes Associated with This Genotype

Genotype
MGI:7493449

• Allelic Composition: Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi}; Tg(Atoh1-cre)1Bfri/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * CBA
• Cell Lines: EPD0019_1_D07

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

nervous system

increased neuron apoptosis ( J:243947 )

• increase in apoptosis in the external granule cell layer at postnatal stages

premature neuronal precursor differentiation ( J:243947 )

• granule neuron progenitors show impaired cell cycle exit

abnormal cerebellum morphology ( J:243947 )

• cerebellar defects are more prominent in the anterior lobe

abnormal cerebellar foliation ( J:243947 )

• severe defects in folia formation at P0 and older, especially in the vermis

abnormal Purkinje cell morphology ( J:243947 )

• abnormal Purkinje cell distribution from P0 onwards, especially at the anterior lobe of the cerebellum

decreased cerebellar granule cell number ( J:243947 )

• in the internal granule cell layer

cerebellum hypoplasia ( J:243947 )

• at P0 and older but not at E15.5, especially in the vermis

cellular

increased neuron apoptosis ( J:243947 )

• increase in apoptosis in the external granule cell layer at postnatal stages

premature neuronal precursor differentiation ( J:243947 )

• granule neuron progenitors show impaired cell cycle exit

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:243947