Mouse Genome Informatics
cx
    Boctm1Rsk/Boc+
Cdontm1Rsk/Cdontm1Rsk

involves: 129/Sv * 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• slightly fewer than expected are recovered at P10

nervous system
• penetrance and severity are lower than in double homozygotes

craniofacial
• some embryos have craniofacial patterning defects as severe as those in double homozygous mice
• dysmorphic maxillary bones
• absent or diminished maxillary shelves
• fused premaxillary bones
• midline defects in cranial bone patterning
• penetrance and severity are lower than in double homozygotes
• midline defects in palatal bone patterning
• penetrance and severity are lower than in double homozygotes
• malformed or missing
• penetrance is lower than in double homozygotes
• fused upper lip
• penetrance is lower than in double homozygotes
• in some mice at E17.5
• fused nostrils
• penetrance is lower than in double homozygotes

skeleton
• dysmorphic maxillary bones
• absent or diminished maxillary shelves
• fused premaxillary bones

respiratory system
• fused nostrils
• penetrance is lower than in double homozygotes

digestive/alimentary system
• absent or diminished maxillary shelves
• midline defects in palatal bone patterning
• penetrance and severity are lower than in double homozygotes
• malformed or missing
• penetrance is lower than in double homozygotes
• in some mice at E17.5

growth/size/body
• absent or diminished maxillary shelves
• midline defects in palatal bone patterning
• penetrance and severity are lower than in double homozygotes
• malformed or missing
• penetrance is lower than in double homozygotes
• fused upper lip
• penetrance is lower than in double homozygotes
• in some mice at E17.5
• fused nostrils
• penetrance is lower than in double homozygotes

Mouse Models of Human Disease
OMIM IDRef(s)
Holoprosencephaly 11; HPE11 614226 J:171767