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Phenotypes Associated with This Genotype
Genotype
MGI:3814907
Allelic
Composition
Six3tm3.1Gco/Six3+
Shhtm1Chg/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1Chg mutation (0 available); any Shh mutation (26 available)
Six3tm3.1Gco mutation (0 available); any Six3 mutation (5 available)
phenotype observed in females
phenotype observed in males
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/body
• 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 ID Ref(s)
Holoprosencephaly 2; HPE2 157170 J:140315


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
05/17/2016
MGI 6.03
The Jackson Laboratory