Phenotypes Associated with This Genotype

Genotype
MGI:3687544

• Allelic Composition: Shh^tm2Chg/Shh⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

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

mortality/aging

perinatal lethality, complete penetrance ( J:125109 )

• animals die perinatally

nervous system

holoprosencephaly ( J:125109 )

• brain defects mimic human holoprosencephaly but external craniofacial morphology is relatively unaffected

increased forebrain size ( J:125109 )

• enlarged

increased midbrain size ( J:125109 )

• enlarged midbrain

enlarged brain ventricles ( J:125109 )

• ventricles are enlarged at E10.5

abnormal choroid plexus morphology ( J:125109 )

• development is defective at E13.5

abnormal telencephalon morphology ( J:125109 )

• telencephalic ventricles are widely separated at E10.5

• at E12.5, telencephalon lacks thickened hippocampal neuroepithelium

• at E10.5 dorsal midline has failed to invaginate in contrast to wild-type

abnormal hippocampus development ( J:125109 )

• defective at E13.5

abnormal telencephalon development ( J:125109 )

• apoptotic activity is eliminated in dorsal midline of telencephalon in contrast to wild-type at E9.5; apoptosis is 7-fold lower than in wild-type

• at E10, proliferation in roof plate region is similar to adjacent tissues and higher than seen in wild-type whereas proliferation is differentially reduced in wild-type embryo roof plate region

• dorsal midline is severely hypoplastic and lacks conjunction of corpus callosum and septum

• increased proliferation and decreased apoptosis persists at E10.5

• telencephalon lacks middle anterior commissure and characteristic choroid plexuses and hippocampal structures that are seen in wild-type; telencephalon lacks well-formed U-shaped hippocampus and ventricles are separated by enlarged thalamus

abnormal corpus callosum morphology ( J:125109 )

• frequent agenesis of dorsal corpus callosum is seen

absent olfactory bulb ( J:125109 )

• mutants lack olfactory bulbs

abnormal embryonic/fetal subventricular zone morphology ( J:125109 )

• a third eminence in addition to LGE and MGE is observed in mutants at E12.5

abnormal lateral ganglionic eminence morphology ( J:125109 )

• eminence is expanded at expense of cortical domain of telencephalon

abnormal medial ganglionic eminence morphology ( J:125109 )

• eminence is expanded at expense of cortical domain of telencephalon

craniofacial

abnormal neurocranium morphology ( J:125109 )

• many embryos display bulging cranium

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

palatal shelves fail to meet at midline ( J:125109 )

• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves

cleft secondary palate ( J:125109 )

• mutants have cleft secondary palate

digestive/alimentary system

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

palatal shelves fail to meet at midline ( J:125109 )

• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves

cleft secondary palate ( J:125109 )

• mutants have cleft secondary palate

skeleton

abnormal neurocranium morphology ( J:125109 )

• many embryos display bulging cranium

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

limbs/digits/tail

polydactyly ( J:109101 )

• develop six to seven digits per limb with complete formation of digits 2-5 (preaxial polydactyly)

growth/size/body

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

palatal shelves fail to meet at midline ( J:125109 )

• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves

cleft secondary palate ( J:125109 )

• mutants have cleft secondary palate