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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 (26 available)
Cdontm1Rsk mutation (0 available); any Cdon mutation (23 available)
phenotype observed in females
phenotype observed in males
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 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
04/19/2016
MGI 6.03
The Jackson Laboratory