Phenotypes Associated with This Genotype

Genotype
MGI:3708348

• Allelic Composition: Chd7^{Gt(S20-7E1)Sor}/Chd7^{Gt(S20-7E1)Sor}
• Genetic Background: involves: 129S1/SvImJ * 129S4/SvJae * C57BL/6J

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

Abnormal development in Chd7^{Gt(S20-7E1)Sor}/Chd7^{Gt(S20-7E1)Sor} mice and delayed turning in Chd7^{Gt(S20-7E1)Sor}/Chd7⁺ embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:119812 )

• no embryos are found after E10.5

hearing/vestibular/ear

abnormal otic vesicle development ( J:119812 )

• at E10.5, the otocyst is thickened

small otic vesicle ( J:119812 )

• at E10.5

embryo

delayed embryo turning ( J:119812 )

• at E10.5

abnormal embryonic neuroepithelium morphology ( J:119812 )

• hypoplastic at E10.5

decreased embryonic neuroepithelium thickness ( J:119812 )

• reduced thickness of the neuroepithelium in the telencephalon, midbrain, and spinal cord

endocrine/exocrine glands

Rathke's pouch hypoplasia ( J:119812 )

• hypoplastic at E10.5

respiratory system

abnormal nasal pit morphology ( J:119812 )

• hypoplasia of the olfactory pits at E10.5

vision/eye

abnormal optic eminence morphology ( J:119812 )

• hypoplasia of the optic eminence at E10.5

limbs/digits/tail

abnormal hindlimb morphology ( J:119812 )

• hypoplasia of the hindlimbs at E10.5

nervous system

abnormal embryonic neuroepithelium morphology ( J:119812 )

• hypoplastic at E10.5

decreased embryonic neuroepithelium thickness ( J:119812 )

• reduced thickness of the neuroepithelium in the telencephalon, midbrain, and spinal cord

Rathke's pouch hypoplasia ( J:119812 )

• hypoplastic at E10.5

abnormal trigeminal ganglion morphology ( J:119812 )

• hypoplastic trigeminal ganglion

craniofacial

abnormal nasal pit morphology ( J:119812 )

• hypoplasia of the olfactory pits at E10.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:119812