Phenotypes Associated with This Genotype

Genotype
MGI:5774845

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S6/SvEvTac

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

vision/eye

small lens ( J:231044 )

• lens structures are either very small or not apparent

abnormal eye development ( J:231044 )

• eye morphogenesis is severely disrupted at E12.5

abnormal optic cup morphology ( J:231044 )

• phenotypes range from highly dysmorphic optic cups in moderately affected eyes to complete absence of discernable optic cup structures in severely affected eyes

absent optic cup ( J:231044 )

• severely affected eyes show complete absence of discernable optic cup structures

coloboma ( J:231044 )

• mice show full-depth colobomas at E12.5 with complete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:231044