Mouse Genome Informatics
hm
    Six3tm1Gco/Six3tm1Gco
involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• homozygotes died at birth

craniofacial
• lacked most structures anterior to the mid brain while the remainder of the body was apparently normal
• eyes and nose missing
• rostral skull and maxillofacial derivatives stunted
• absent at E9.5
• by E8-8.25, optic pits are undetectable

embryogenesis
• anterior patterning is affected by the 1-2 somite stage
• normal thickening in the neurectodermal border is absent

skeleton
• rostral skull and maxillofacial derivatives stunted

nervous system
• normal thickening in the neurectodermal border is absent
• by E8-8.25, forebrain morphogenesis is abnormal
• telencephalic vesicles absent at E12.5
• at E12.5 there was severe truncation of the forebrain
• by E8-8.25 the midbrain appears to be anteriorly expanded

vision/eye
• absent at E12.5
• at E9.5 eyes are lacking

taste/olfaction
• absent at E9.5

respiratory system
• absent at E9.5

Mouse Models of Human Disease
OMIM IDRef(s)
Holoprosencephaly 2; HPE2 157170 J:81797