Phenotypes associated with this allele

• Allele Symbol: Boc⁺
• Allele Name: wild type
• Allele ID: MGI:2441159
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Boc^tm1Aok/Boc^+ Gas1^tm2Fan/Gas1^+	involves: 129 * C57BL/6 * CD-1	MGI:7287690
cx2	Boc^tm1Aok/Boc^+ Gas1^tm2Fan/Gas1^tm2Fan	involves: 129 * C57BL/6 * CD-1	MGI:7287691
cx3	Boc^tm1Rsk/Boc^+ Cdon^tm1Rsk/Cdon^tm1Rsk	involves: 129/Sv * 129S6/SvEvTac	MGI:5000244
cx4	Boc^tm2Rsk/Boc^+ Cdon^tm1Rsk/Cdon^tm1Rsk	involves: 129/Sv * 129S6/SvEvTac	MGI:5000246

Genotype
MGI:7287690

cx1

• Allelic Composition: Boc^tm1Aok/Boc⁺; Gas1^tm2Fan/Gas1⁺
• Genetic Background: involves: 129 * C57BL/6 * CD-1

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

craniofacial

craniofacial phenotype ( J:310333 )

N • mice exhibit a craniofacial midline comparable to that of wild type mice, with normal palatal development at E14.5 and normal Shh activity in the palatal shelves at E12.5

Genotype
MGI:7287691

cx2

• Allelic Composition: Boc^tm1Aok/Boc⁺; Gas1^tm2Fan/Gas1^tm2Fan
• Genetic Background: involves: 129 * C57BL/6 * CD-1

nervous system

holoprosencephaly ( J:310333 )

• at E14.5, mice exhibit microform holoprosencephaly

craniofacial

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• at E14.5, mice show a higher cell packing index (CPI, a measure of cell density) within the palatal shelf mesenchymal component than double heterozygous controls

• at E14.5, mice also show a higher proliferation index per unit area (PIPUA) within palatal shelf mesenchyme than double heterozygous controls, but to a lesser extent than in Boc^tm1Aok homozygotes (which have the lowest CPI and highest PIPUA value amongst genotypes)

abnormal secondary palate development ( J:310333 )

• at E14.5, TUNEL assays showed lower levels of apoptosis within anterior, medial and posterior sections of the palatal shelves than in double heterozygous controls

cleft palate ( J:310333 )

• at E14.5, mice exhibit cleft palate with incomplete penetrance

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• at E14.5, mice show a higher cell packing index (CPI, a measure of cell density) within the palatal shelf mesenchymal component than double heterozygous controls

• at E14.5, mice also show a higher proliferation index per unit area (PIPUA) within palatal shelf mesenchyme than double heterozygous controls, but to a lesser extent than in Boc^tm1Aok homozygotes (which have the lowest CPI and highest PIPUA value amongst genotypes)

abnormal secondary palate development ( J:310333 )

• at E14.5, TUNEL assays showed lower levels of apoptosis within anterior, medial and posterior sections of the palatal shelves than in double heterozygous controls

cleft palate ( J:310333 )

• at E14.5, mice exhibit cleft palate with incomplete penetrance

growth/size/body

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• at E14.5, mice show a higher cell packing index (CPI, a measure of cell density) within the palatal shelf mesenchymal component than double heterozygous controls

• at E14.5, mice also show a higher proliferation index per unit area (PIPUA) within palatal shelf mesenchyme than double heterozygous controls, but to a lesser extent than in Boc^tm1Aok homozygotes (which have the lowest CPI and highest PIPUA value amongst genotypes)

abnormal secondary palate development ( J:310333 )

• at E14.5, TUNEL assays showed lower levels of apoptosis within anterior, medial and posterior sections of the palatal shelves than in double heterozygous controls

cleft palate ( J:310333 )

• at E14.5, mice exhibit cleft palate with incomplete penetrance

Genotype
MGI:5000244

cx3

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

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

respiratory system

external nares atresia ( J:171767 )

• fused nostrils

• penetrance is lower than in double homozygotes

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

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

Genotype
MGI:5000246

cx4

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

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