About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Boctm1Rsk
targeted mutation 1, Robert S Krauss
MGI:5000228
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Boctm1Rsk/Boctm1Rsk B6.129S6-Boctm1Rsk MGI:5000239
hm2
Boctm1Rsk/Boctm1Rsk involves: 129S6/SvEvTac MGI:5000242
cx3
Boctm1Rsk/Boctm1Rsk
Cdontm1Rsk/Cdontm1Rsk
B6.129-Boctm1Rsk Cdontm1Rsk MGI:5000248
cx4
Boctm1Rsk/Boctm1Rsk
Cdontm1Rsk/Cdontm1Rsk
involves: 129/Sv * 129S6/SvEvTac MGI:5000243
cx5
Boctm1Rsk/Boc+
Cdontm1Rsk/Cdontm1Rsk
involves: 129/Sv * 129S6/SvEvTac MGI:5000244


Genotype
MGI:5000239
hm1
Allelic
Composition
Boctm1Rsk/Boctm1Rsk
Genetic
Background
B6.129S6-Boctm1Rsk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Boctm1Rsk mutation (0 available); any Boc mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable and do not display holoprosencephaly related phenotypes




Genotype
MGI:5000242
hm2
Allelic
Composition
Boctm1Rsk/Boctm1Rsk
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Boctm1Rsk mutation (0 available); any Boc mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable and do not display holoprosencephaly related phenotypes




Genotype
MGI:5000248
cx3
Allelic
Composition
Boctm1Rsk/Boctm1Rsk
Cdontm1Rsk/Cdontm1Rsk
Genetic
Background
B6.129-Boctm1Rsk Cdontm1Rsk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Boctm1Rsk mutation (0 available); any Boc mutation (40 available)
Cdontm1Rsk mutation (0 available); any Cdon mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• display a range of holoprosencephalic phenotypes

craniofacial
N
• do not display cyclopia
• Background Sensitivity: unlike mice on a 129 background, mice on a C57BL/6 background display cleft lip
• proboscis like nose

vision/eye

limbs/digits/tail
N
• do not display digit patterning defects unlike Shh null mice

growth/size/body
• Background Sensitivity: unlike mice on a 129 background, mice on a C57BL/6 background display cleft lip
• proboscis like nose

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




Genotype
MGI:5000243
cx4
Allelic
Composition
Boctm1Rsk/Boctm1Rsk
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 (40 available)
Cdontm1Rsk mutation (0 available); any Cdon mutation (39 available)
phenotype observed in females
phenotype observed in males
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
• missing in some cases
• in some mice at E17.5
• fused and pointed nostrils at E13.5 and E15.5
• fused 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
• dysmorphic maxillary bones
• absent or diminished maxillary shelves
• fused premaxillary bones
• lack ossification of the cervical vertebrae intervertebral discs at E18.5

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

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
• missing in some cases
• in some mice at E17.5

growth/size/body
• 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
• missing in some cases
• in some mice at E17.5
• fused and pointed nostrils at E13.5 and E15.5
• fused nostrils at E13.5 and E15.5
• precartilage primordium is hypoplastic at E15.5

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




Genotype
MGI:5000244
cx5
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 (40 available)
Cdontm1Rsk mutation (0 available); any Cdon mutation (39 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
• missing in some cases
• 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
• missing in some cases
• 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
• missing in some cases
• in some mice at E17.5
• 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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/18/2020
MGI 6.14
The Jackson Laboratory