Mouse Genome Informatics
cx
    Boctm2Rsk/Boctm2Rsk
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
• the expected numbers are recovered at E18.5 but no mice are recovered at P10

nervous system
• strong midfacial holoprosencephaly defects with high penetrance at E11.5, E13.5, and E15.5
• relatively mild ventral forebrain midline defects similar to lobar holoprosencephaly
• relatively mild ventral forebrain midline defects similar to lobar holoprosencephaly
• display continuity across the ventral midline
• forebrain midline defect is less severe than in mice homozygous for Cdontm1Rsk alone on a C57BL/6 background
• reduced in size or occasionally fused at E13.5
• reduced in size or occasionally fused at E13.5

craniofacial
• dysmorphic maxillary bones
• absent or diminished maxillary shelves
• fused premaxillary bones
• hypoplasia at the facial midline at E11.5 with somewhat variable expressivity
• the most severe cases include fusion of the nasal processes at E11.5
• craniofacial defects are more severe than in mice homozygous for Cdontm1Rsk alone on a C57BL/6 background
• midline defects in cranial bone patterning
• midline defects in palatal bone patterning
• malformed or missing
• malformed or open
• at E13.5 palatal shelves usually grow medially towards each other rather than growing downward beside the tongue
• at E15.5 palatal shelves begin to fuse but in some cases fusion appears to begin medially rather than at the tips, in other cases the tips fail to fuse as they do not align properly
• at E14.5 palatal shelves either resemble those at E13.5 or if they have grown fail to elevate
• fused upper lip at E13.5 and E15.5
• Background Sensitivity: unlike mice on a congenic C57BL/6 background, mice do not display cleft lip
• in some mice at E17.5
• fused and pointed nostrils at E13.5 and E15.5
• precartilage primordium is hypoplastic at E15.5

vision/eye
• at E13.5 and E15.5

skeleton
N
• limb skeletal development is not significantly different from controls (J:171767)
• dysmorphic maxillary bones
• absent or diminished maxillary shelves
• fused premaxillary bones
• lack ossification of the cervical vertebrae intervertebral discs at E18.5

digestive/alimentary system
• absent or diminished maxillary shelves
• midline defects in palatal bone patterning
• malformed or missing
• malformed or open
• at E13.5 palatal shelves usually grow medially towards each other rather than growing downward beside the tongue
• at E15.5 palatal shelves begin to fuse but in some cases fusion appears to begin medially rather than at the tips, in other cases the tips fail to fuse as they do not align properly
• at E14.5 palatal shelves either resemble those at E13.5 or if they have grown fail to elevate
• in some mice at E17.5

respiratory system
• fused and pointed nostrils at E13.5 and E15.5
• precartilage primordium is hypoplastic at E15.5

growth/size
• absent or diminished maxillary shelves
• midline defects in palatal bone patterning
• malformed or missing
• malformed or open
• at E13.5 palatal shelves usually grow medially towards each other rather than growing downward beside the tongue
• at E15.5 palatal shelves begin to fuse but in some cases fusion appears to begin medially rather than at the tips, in other cases the tips fail to fuse as they do not align properly
• at E14.5 palatal shelves either resemble those at E13.5 or if they have grown fail to elevate
• fused upper lip at E13.5 and E15.5
• Background Sensitivity: unlike mice on a congenic C57BL/6 background, mice do not display cleft lip
• in some mice at E17.5
• fused and pointed nostrils at E13.5 and E15.5
• precartilage primordium is hypoplastic at E15.5

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