Phenotypes Associated with This Genotype

Genotype
MGI:7287691

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

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

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