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Phenotypes Associated with This Genotype
Genotype
MGI:5000244
Allelic
Composition
Boctm1Rsk/Boc+
Cdontm1Rsk/Cdontm1Rsk
Genetic
Background
involves: 129/Sv * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Boctm1Rsk mutation (0 available); any Boc mutation (9 available)
Cdontm1Rsk mutation (0 available); any Cdon mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• slightly fewer than expected are recovered at P10 (J:171767)
• slightly fewer than expected are recovered at P10 (J:171767)

nervous system
• penetrance and severity are lower than in double homozygotes (J:171767)
• penetrance and severity are lower than in double homozygotes (J:171767)

craniofacial
• some embryos have craniofacial patterning defects as severe as those in double homozygous mice (J:171767)
• some embryos have craniofacial patterning defects as severe as those in double homozygous mice (J:171767)
• dysmorphic maxillary bones (J:171767)
• dysmorphic maxillary bones (J:171767)
• absent or diminished maxillary shelves (J:171767)
• absent or diminished maxillary shelves (J:171767)
• fused premaxillary bones (J:171767)
• fused premaxillary bones (J:171767)
• midline defects in cranial bone patterning (J:171767)
• penetrance and severity are lower than in double homozygotes (J:171767)
• midline defects in cranial bone patterning (J:171767)
• penetrance and severity are lower than in double homozygotes (J:171767)
• midline defects in palatal bone patterning (J:171767)
• penetrance and severity are lower than in double homozygotes (J:171767)
• midline defects in palatal bone patterning (J:171767)
• penetrance and severity are lower than in double homozygotes (J:171767)
• malformed or missing (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• malformed or missing (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• malformed or open (J:171767)
• malformed or open (J:171767)
• fused upper lip (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• fused upper lip (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• in some mice at E17.5 (J:171767)
• in some mice at E17.5 (J:171767)
• fused nostrils (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• fused nostrils (J:171767)
• penetrance is lower than in double homozygotes (J:171767)

skeleton
• dysmorphic maxillary bones (J:171767)
• dysmorphic maxillary bones (J:171767)
• absent or diminished maxillary shelves (J:171767)
• absent or diminished maxillary shelves (J:171767)
• fused premaxillary bones (J:171767)
• fused premaxillary bones (J:171767)

respiratory system
• fused nostrils (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• fused nostrils (J:171767)
• penetrance is lower than in double homozygotes (J:171767)

digestive/alimentary system
• absent or diminished maxillary shelves (J:171767)
• absent or diminished maxillary shelves (J:171767)
• midline defects in palatal bone patterning (J:171767)
• penetrance and severity are lower than in double homozygotes (J:171767)
• midline defects in palatal bone patterning (J:171767)
• penetrance and severity are lower than in double homozygotes (J:171767)
• malformed or missing (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• malformed or missing (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• malformed or open (J:171767)
• malformed or open (J:171767)
• in some mice at E17.5 (J:171767)
• in some mice at E17.5 (J:171767)

growth/size/body
• absent or diminished maxillary shelves (J:171767)
• absent or diminished maxillary shelves (J:171767)
• midline defects in palatal bone patterning (J:171767)
• penetrance and severity are lower than in double homozygotes (J:171767)
• midline defects in palatal bone patterning (J:171767)
• penetrance and severity are lower than in double homozygotes (J:171767)
• malformed or missing (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• malformed or missing (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• malformed or open (J:171767)
• malformed or open (J:171767)
• fused upper lip (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• fused upper lip (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• in some mice at E17.5 (J:171767)
• in some mice at E17.5 (J:171767)
• penetrance is lower than in double homozygotes (J:171767)
• fused nostrils (J:171767)
• fused nostrils (J:171767)
• penetrance is lower than in double homozygotes (J:171767)

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


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
02/02/2016
MGI 6.02
The Jackson Laboratory