Phenotypes Associated with This Genotype

Genotype
MGI:5428462

• Allelic Composition: Tg(Sox3)1Pqt/0; Tg(Sox3-EGFP)NrPqt/0
• Genetic Background: involves: C57BL/6 * CBA

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

nervous system

nervous system phenotype ( J:184232 )

N • choroid plexus development is normal

N • the fourth ventricle is not enlarged

abnormal roof plate morphology ( J:184232 )

• formation of diencephalic roof plate is inhibited

abnormal subcommissural organ morphology ( J:184232 )

• thin at E13.5 with fewer elongated cells

• barely discernable at E14.5

• at E15.5, tall columnar cells are only found in the very posterior limits unlike in wild-type cells

• the subcommissural organ (SCO) primordium fails to develop into a functional mature organ unlike in wild-type mice

• however, SCO initiation is normal

hydrocephaly ( J:184232 )

• in nearly all mice

enlarged lateral ventricles ( J:184232 )

• as early as E18.5

• at 3 to 5 weeks

abnormal posterior commissure morphology ( J:184232 )

• disorganized at E15.5

• missing at E18.5

abnormal diencephalon morphology ( J:184232 )

• formation of diencephalic roof plate is inhibited

absent pineal gland ( J:184232 )

• at E13.5 and E18.5

enlarged third ventricle ( J:184232 )

• at 3 to 5 weeks

absent pineal recess ( J:184232 )

• at E13.5 and E18.5

embryo

abnormal roof plate morphology ( J:184232 )

• formation of diencephalic roof plate is inhibited

craniofacial

domed cranium ( J:184232 )

cellular

increased cell proliferation ( J:184232 )

• of subcommissural organ primordium cells at E12.5 without a change in apoptosis

endocrine/exocrine glands

absent pineal gland ( J:184232 )

• at E13.5 and E18.5

abnormal subcommissural organ morphology ( J:184232 )

• thin at E13.5 with fewer elongated cells

• barely discernable at E14.5

• at E15.5, tall columnar cells are only found in the very posterior limits unlike in wild-type cells

• the subcommissural organ (SCO) primordium fails to develop into a functional mature organ unlike in wild-type mice

• however, SCO initiation is normal

skeleton

domed cranium ( J:184232 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hydrocephalus		DOID:10908	OMIM:123155 OMIM:236600 OMIM:236635 OMIM:307000 OMIM:615219	J:184232