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Phenotypes Associated with This Genotype
Genotype
MGI:3708348
Allelic
Composition
Chd7Gt(S20-7E1)Sor/Chd7Gt(S20-7E1)Sor
Genetic
Background
involves: 129S1/SvImJ * 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7Gt(S20-7E1)Sor mutation (1 available); any Chd7 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal development in Chd7Gt(S20-7E1)Sor/Chd7Gt(S20-7E1)Sor mice and delayed turning in Chd7Gt(S20-7E1)Sor/Chd7+ embryos

mortality/aging

hearing/vestibular/ear
• at E10.5, the otocyst is thickened
• at E10.5

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

endocrine/exocrine glands
• hypoplastic at E10.5

respiratory system
• hypoplasia of the olfactory pits at E10.5

vision/eye
• hypoplasia of the optic eminence at E10.5

limbs/digits/tail
• hypoplasia of the hindlimbs at E10.5

nervous system
• reduced thickness of the neuroepithelium in the telencephalon, midbrain, and spinal cord
• hypoplastic at E10.5
• hypoplastic trigeminal ganglion

craniofacial
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/08/2017
MGI 6.10
The Jackson Laboratory