Phenotypes associated with this allele

• Allele Symbol: Boc^tm1Aok
• Allele Name: targeted mutation 1, Ami Okada
• Allele ID: MGI:3692939
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Boc^tm1Aok/Boc^tm1Aok	involves: 129 * CD-1	MGI:7450875
hm2	Boc^tm1Aok/Boc^tm1Aok	involves: 129P2/OlaHsd * CD-1	MGI:3696406
cx3	Boc^tm1Aok/Boc^+ Gas1^tm2Fan/Gas1^+	involves: 129 * C57BL/6 * CD-1	MGI:7287690
cx4	Boc^tm1Aok/Boc^+ Gas1^tm2Fan/Gas1^tm2Fan	involves: 129 * C57BL/6 * CD-1	MGI:7287691
cx5	Boc^tm1Aok/Boc^tm1Aok Gas1^tm2Fan/Gas1^tm2Fan	involves: 129 * C57BL/6 * CD-1	MGI:7287692

Genotype
MGI:7450875

hm1

• Allelic Composition: Boc^tm1Aok/Boc^tm1Aok
• Genetic Background: involves: 129 * CD-1

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

craniofacial

craniofacial phenotype ( J:310333 )

N • at E14.5, mice exhibit normal palatal development and palatal shelf cell survival relative controls

Genotype
MGI:3696406

hm2

• Allelic Composition: Boc^tm1Aok/Boc^tm1Aok
• Genetic Background: involves: 129P2/OlaHsd * CD-1

nervous system

nervous system phenotype ( J:115577 )

N • at E11.5 neural tube patterning appears normal

abnormal innervation ( J:115577 )

• at E11.5 TAG+ commissural neuron projects are highly dispersed and invade the ventral spinal cord with ectopic projections extending over the motor columns

Genotype
MGI:7287690

cx3

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

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

cx4

• 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:7287692

cx5

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

craniofacial

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• at E14.5, mice 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 cell packing index (CPI) value and highest PIPUA value amongst genotypes)

• however, the CPI value is not statistically different from that in double heterozygous controls

abnormal secondary palate development ( J:310333 )

• at E12.5, expression levels of Shh and its target genes Ptch1 and Gli1 are reduced, indicating reduced Shh activity in the palatal shelves during palate development

• 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

• despite increased mesenchymal proliferation and reduced epithelial cell death, palatal shelf size is similar to that in double heterozygous controls

cleft palate ( J:310333 )

• at E14.5, mice exhibit a fully penetrant cleft palate

cleft secondary palate ( J:310333 )

failure of palatal shelf elevation ( J:310333 )

• at E14.5, mice show failure of palatal shelf (PS) elevation above the tongue

bifid tongue ( J:310333 )

• at E14.5, a midline cleft is noted within the posterior third of the tongue in the pharyngeal region

abnormal vomeronasal organ morphology ( J:310333 )

• at E14.5, the vomeronasal organ is abnormally positioned

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• at E14.5, mice 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 cell packing index (CPI) value and highest PIPUA value amongst genotypes)

• however, the CPI value is not statistically different from that in double heterozygous controls

abnormal secondary palate development ( J:310333 )

• at E12.5, expression levels of Shh and its target genes Ptch1 and Gli1 are reduced, indicating reduced Shh activity in the palatal shelves during palate development

• 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

• despite increased mesenchymal proliferation and reduced epithelial cell death, palatal shelf size is similar to that in double heterozygous controls

cleft palate ( J:310333 )

• at E14.5, mice exhibit a fully penetrant cleft palate

cleft secondary palate ( J:310333 )

failure of palatal shelf elevation ( J:310333 )

• at E14.5, mice show failure of palatal shelf (PS) elevation above the tongue

bifid tongue ( J:310333 )

• at E14.5, a midline cleft is noted within the posterior third of the tongue in the pharyngeal region

growth/size/body

abnormal palatal mesenchymal cell proliferation ( J:310333 )

• at E14.5, mice 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 cell packing index (CPI) value and highest PIPUA value amongst genotypes)

• however, the CPI value is not statistically different from that in double heterozygous controls

abnormal secondary palate development ( J:310333 )

• at E12.5, expression levels of Shh and its target genes Ptch1 and Gli1 are reduced, indicating reduced Shh activity in the palatal shelves during palate development

• 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

• despite increased mesenchymal proliferation and reduced epithelial cell death, palatal shelf size is similar to that in double heterozygous controls

cleft palate ( J:310333 )

• at E14.5, mice exhibit a fully penetrant cleft palate

cleft secondary palate ( J:310333 )

failure of palatal shelf elevation ( J:310333 )

• at E14.5, mice show failure of palatal shelf (PS) elevation above the tongue

bifid tongue ( J:310333 )

• at E14.5, a midline cleft is noted within the posterior third of the tongue in the pharyngeal region

abnormal vomeronasal organ morphology ( J:310333 )

• at E14.5, the vomeronasal organ is abnormally positioned

nervous system

abnormal vomeronasal organ morphology ( J:310333 )

• at E14.5, the vomeronasal organ is abnormally positioned

respiratory system

abnormal vomeronasal organ morphology ( J:310333 )

• at E14.5, the vomeronasal organ is abnormally positioned