Phenotypes Associated with This Genotype

Genotype
MGI:5000246

• Allelic Composition: Boc^tm2Rsk/Boc⁺; Cdon^tm1Rsk/Cdon^tm1Rsk
• Genetic Background: involves: 129/Sv * 129S6/SvEvTac

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

preweaning lethality, incomplete penetrance ( J:171767 )

• slightly fewer than expected are recovered at P10

nervous system

holoprosencephaly ( J:171767 )

• penetrance and severity are lower than in double homozygotes

craniofacial

abnormal craniofacial morphology ( J:171767 )

• some embryos have craniofacial patterning defects as severe as those in double homozygous mice

basisphenoid bone foramen ( J:171767 )

small basisphenoid bone ( J:171767 )

abnormal maxilla morphology ( J:171767 )

• dysmorphic maxillary bones

abnormal maxillary shelf morphology ( J:171767 )

• absent or diminished maxillary shelves

absent maxillary shelf ( J:171767 )

decreased maxillary shelf size ( J:171767 )

abnormal premaxilla morphology ( J:171767 )

• fused premaxillary bones

abnormal craniofacial development ( J:171767 )

• midline defects in cranial bone patterning

• penetrance and severity are lower than in double homozygotes

abnormal palate development ( J:171767 )

• midline defects in palatal bone patterning

• penetrance and severity are lower than in double homozygotes

abnormal primary palate development ( J:171767 )

• malformed or missing

• penetrance is lower than in double homozygotes

abnormal secondary palate development ( J:171767 )

• malformed or open

abnormal upper lip morphology ( J:171767 )

• fused upper lip

• penetrance is lower than in double homozygotes

absent primary palate ( J:171767 )

• missing in some cases

cleft palate ( J:171767 )

• in some mice at E17.5

external nares atresia ( J:171767 )

• fused nostrils

• penetrance is lower than in double homozygotes

skeleton

basisphenoid bone foramen ( J:171767 )

small basisphenoid bone ( J:171767 )

abnormal maxilla morphology ( J:171767 )

• dysmorphic maxillary bones

abnormal maxillary shelf morphology ( J:171767 )

• absent or diminished maxillary shelves

absent maxillary shelf ( J:171767 )

decreased maxillary shelf size ( J:171767 )

abnormal premaxilla morphology ( J:171767 )

• fused premaxillary bones

digestive/alimentary system

abnormal maxillary shelf morphology ( J:171767 )

• absent or diminished maxillary shelves

absent maxillary shelf ( J:171767 )

decreased maxillary shelf size ( J:171767 )

abnormal palate development ( J:171767 )

• midline defects in palatal bone patterning

• penetrance and severity are lower than in double homozygotes

abnormal primary palate development ( J:171767 )

• malformed or missing

• penetrance is lower than in double homozygotes

abnormal secondary palate development ( J:171767 )

• malformed or open

absent primary palate ( J:171767 )

• missing in some cases

cleft palate ( J:171767 )

• in some mice at E17.5

respiratory system

external nares atresia ( J:171767 )

• fused nostrils

• penetrance is lower than in double homozygotes

growth/size/body

abnormal maxillary shelf morphology ( J:171767 )

• absent or diminished maxillary shelves

absent maxillary shelf ( J:171767 )

decreased maxillary shelf size ( J:171767 )

abnormal palate development ( J:171767 )

• midline defects in palatal bone patterning

• penetrance and severity are lower than in double homozygotes

abnormal primary palate development ( J:171767 )

• malformed or missing

• penetrance is lower than in double homozygotes

abnormal secondary palate development ( J:171767 )

• malformed or open

abnormal upper lip morphology ( J:171767 )

• fused upper lip

• penetrance is lower than in double homozygotes

absent primary palate ( J:171767 )

• missing in some cases

cleft palate ( J:171767 )

• in some mice at E17.5

external nares atresia ( J:171767 )

• fused nostrils

• penetrance is lower than in double homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly 11		DOID:0110877	OMIM:614226	J:171767