Phenotypes Associated with This Genotype

Genotype
MGI:3814907

• Allelic Composition: Six3^tm3.1Gco/Six3⁺; Shh^tm1Chg/Shh⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

nervous system

holoprosencephaly ( J:140315 )

• 75% display a phenotype typical of holoprosencephaly after one backcross to C57BL/6

• after five backcrosses to C57BL/6, 100% show a holoprosencephaly phenotype

abnormal telencephalon morphology ( J:140315 )

• a single ganglionic eminence

• telencephalon is smaller at E10.5 than in controls

• reduced apoptosis in the ventral midline at E10.5

• increased apoptosis in the lateral dorsal telencephalon

abnormal cerebral hemisphere morphology ( J:140315 )

• cerebral hemispheres fused rostrally

absent corpus callosum ( J:140315 )

• at E17.5

olfactory bulb hypoplasia ( J:140315 )

• hypoplasia

craniofacial

abnormal medial nasal prominence morphology ( J:140315 )

• defective separation of the medial nasal prominence at E11.5

abnormal palatal shelf fusion at midline ( J:140315 )

• fusion defects in the secondary palate

absent philtrum ( J:140315 )

• absence of philtrum at E17.5

absent nasal septum ( J:140315 )

• no cartilaginous nasal septum at E17.5

respiratory system

absent nasal septum ( J:140315 )

• no cartilaginous nasal septum at E17.5

vision/eye

abnormal optic stalk morphology ( J:140315 )

• reduced apoptosis at E10.5

ocular hypotelorism ( J:140315 )

• shorter distance between the eyes at E11.5

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:140315 )

• fusion defects in the secondary palate

growth/size/body

abnormal palatal shelf fusion at midline ( J:140315 )

• fusion defects in the secondary palate

absent philtrum ( J:140315 )

• absence of philtrum at E17.5

absent nasal septum ( J:140315 )

• no cartilaginous nasal septum at E17.5

microcephaly ( J:140315 )

• at E11.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly 2		DOID:0110872	OMIM:157170	J:140315