Phenotypes Associated with This Genotype

Genotype
MGI:5807347

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

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

reproductive system

abnormal seminiferous tubule morphology ( J:329885 )

• tubules are generally less circular and frequently have irregular linings

vision/eye

coloboma ( J:231044 )

• full penetrance of coloboma, although the extent of involvement within the retina and iris varies

• coloboma is seen at E15.5

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:329885 )

• tubules are generally less circular and frequently have irregular linings

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