Analysis Tools
normal phenotype
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• viable and do not display holoprosencephaly related phenotypes
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Allele Symbol Allele Name Allele ID |
Boctm1Rsk targeted mutation 1, Robert S Krauss MGI:5000228 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• viable and do not display holoprosencephaly related phenotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• viable and do not display holoprosencephaly related phenotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• display a range of holoprosencephalic phenotypes
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| N |
• do not display cyclopia
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• Background Sensitivity: unlike mice on a 129 background, mice on a C57BL/6 background display cleft lip
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| N |
• do not display digit patterning defects unlike Shh null mice
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• Background Sensitivity: unlike mice on a 129 background, mice on a C57BL/6 background display cleft lip
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| holoprosencephaly 11 | DOID:0110877 |
OMIM:614226 |
J:171767 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the expected numbers are recovered at E18.5 but no mice are recovered at P10
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• strong midfacial holoprosencephaly defects with high penetrance at E11.5, E13.5, and E15.5
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• relatively mild ventral forebrain midline defects similar to lobar holoprosencephaly
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• relatively mild ventral forebrain midline defects similar to lobar holoprosencephaly
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• display continuity across the ventral midline
• forebrain midline defect is less severe than in mice homozygous for Cdontm1Rsk alone on a C57BL/6 background
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• reduced in size or occasionally fused at E13.5
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• reduced in size or occasionally fused at E13.5
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• dysmorphic maxillary bones
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• absent or diminished maxillary shelves
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• fused premaxillary bones
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• 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
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• midline defects in palatal bone patterning
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• malformed or missing
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• malformed or open
• at E13.5 palatal shelves usually grow medially towards each other rather than growing downward beside the tongue
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• at E14.5 palatal shelves either resemble those at E13.5 or if they have grown fail to elevate
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• 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
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• 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
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• missing in some cases
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• in some mice at E17.5
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• fused and pointed nostrils at E13.5 and E15.5
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• fused nostrils at E13.5 and E15.5
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• precartilage primordium is hypoplastic at E15.5
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• at E13.5 and E15.5
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| N |
• limb skeletal development is not significantly different from controls
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• dysmorphic maxillary bones
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• absent or diminished maxillary shelves
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• fused premaxillary bones
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• lack ossification of the cervical vertebrae intervertebral discs at E18.5
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• fused and pointed nostrils at E13.5 and E15.5
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• fused nostrils at E13.5 and E15.5
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• precartilage primordium is hypoplastic at E15.5
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• absent or diminished maxillary shelves
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• midline defects in palatal bone patterning
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• malformed or missing
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• malformed or open
• at E13.5 palatal shelves usually grow medially towards each other rather than growing downward beside the tongue
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• at E14.5 palatal shelves either resemble those at E13.5 or if they have grown fail to elevate
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• 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
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• missing in some cases
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• in some mice at E17.5
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• absent or diminished maxillary shelves
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• midline defects in palatal bone patterning
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• malformed or missing
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• malformed or open
• at E13.5 palatal shelves usually grow medially towards each other rather than growing downward beside the tongue
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• at E14.5 palatal shelves either resemble those at E13.5 or if they have grown fail to elevate
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• 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
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• 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
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• missing in some cases
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• in some mice at E17.5
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• fused and pointed nostrils at E13.5 and E15.5
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• fused nostrils at E13.5 and E15.5
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• precartilage primordium is hypoplastic at E15.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| holoprosencephaly 11 | DOID:0110877 |
OMIM:614226 |
J:171767 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• slightly fewer than expected are recovered at P10
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• penetrance and severity are lower than in double homozygotes
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• some embryos have craniofacial patterning defects as severe as those in double homozygous mice
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• dysmorphic maxillary bones
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• absent or diminished maxillary shelves
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• fused premaxillary bones
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• midline defects in cranial bone patterning
• penetrance and severity are lower than in double homozygotes
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• midline defects in palatal bone patterning
• penetrance and severity are lower than in double homozygotes
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• malformed or missing
• penetrance is lower than in double homozygotes
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• malformed or open
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• fused upper lip
• penetrance is lower than in double homozygotes
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• missing in some cases
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• in some mice at E17.5
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• fused nostrils
• penetrance is lower than in double homozygotes
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• dysmorphic maxillary bones
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|
• absent or diminished maxillary shelves
|
|
• fused premaxillary bones
|
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• fused nostrils
• penetrance is lower than in double homozygotes
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• absent or diminished maxillary shelves
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• midline defects in palatal bone patterning
• penetrance and severity are lower than in double homozygotes
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• malformed or missing
• penetrance is lower than in double homozygotes
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• malformed or open
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• missing in some cases
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• in some mice at E17.5
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• absent or diminished maxillary shelves
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• midline defects in palatal bone patterning
• penetrance and severity are lower than in double homozygotes
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• malformed or missing
• penetrance is lower than in double homozygotes
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• malformed or open
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• fused upper lip
• penetrance is lower than in double homozygotes
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• missing in some cases
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• in some mice at E17.5
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• fused nostrils
• penetrance is lower than in double homozygotes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| holoprosencephaly 11 | DOID:0110877 |
OMIM:614226 |
J:171767 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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