Mouse Genome Informatics
cx
    Six3tm3.1Gco/Six3+
Shhtm1Chg/Shh+

involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• 75% display a phenotype typical of holoprosencephaly after one backcross to C57BL/6
• after five backcrosses to C57BL/6, 100% show a holoprosencephaly phenotype
• 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
• cerebral hemispheres fused rostrally

craniofacial
• defective separation of the medial nasal prominence at E11.5
• fusion defects in the secondary palate
• absence of philtrum at E17.5
• no cartilaginous nasal septum at E17.5

respiratory system
• no cartilaginous nasal septum at E17.5

vision/eye
• reduced apoptosis at E10.5
• shorter distance between the eyes at E11.5

digestive/alimentary system
• fusion defects in the secondary palate

growth/size
• fusion defects in the secondary palate
• absence of philtrum at E17.5
• no cartilaginous nasal septum at E17.5
• at E11.5

Mouse Models of Human Disease
OMIM IDRef(s)
Holoprosencephaly 2; HPE2 157170 J:140315