Phenotypes Associated with This Genotype

Genotype
MGI:3851912

• Allelic Composition: Hdac8^tm1.2Eno/Hdac8⁺
• Genetic Background: involves: 129 * C57BL/6 * CD-1

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:150709 )

♀ • Background Sensitivity: after several backcrosses to C57BL/6, some mice die within 4-6 hours after birth from brain hemorrhaging

cellular

genetic imprinting ( J:150709 )

♀ • Background Sensitivity: neonatal lethality of heterozygote female mice possibly results from random X-linked inactivation of the wild-type allele as the phenotype can be rescued by a transgene expressing Hdac8 (i.e. mutant allele is not a dominant-negative)

cardiovascular system

intracranial hemorrhage ( J:150709 )

♀ • Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

♀ • Background Sensitivity: penetrance of the bleeding phenotype increases to 100% after 2 backcrosses to C57BL/6

♀ • Background Sensitivity: hemorrhaging results from ossification defects in the skull

craniofacial

frontal bone foramen ( J:150709 )

♀ • Background Sensitivity: phenotype depends on degree of backcrossing to C57BL/6 and ranges from a small persistent anterior fontanelle to severe frontocranial dysplasia with obvious biomechanical instability

embryo

decreased embryo weight ( J:150709 )

♀ • E18.5 embryo size is slightly decreased in size and weight

growth/size/body

decreased embryo weight ( J:150709 )

♀ • E18.5 embryo size is slightly decreased in size and weight

nervous system

intracranial hemorrhage ( J:150709 )

♀ • Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

♀ • Background Sensitivity: penetrance of the bleeding phenotype increases to 100% after 2 backcrosses to C57BL/6

♀ • Background Sensitivity: hemorrhaging results from ossification defects in the skull

exencephaly ( J:150709 )

♀ • some severe cases have herniation of brain and other soft tissue through the top of the skull

skeleton

frontal bone foramen ( J:150709 )

♀ • Background Sensitivity: phenotype depends on degree of backcrossing to C57BL/6 and ranges from a small persistent anterior fontanelle to severe frontocranial dysplasia with obvious biomechanical instability

failure of intramembranous bone ossification ( J:150709 )

♀ • ossification defects lead to the presence of soft tissues in the frontal and interparietal bone and incomplete skull closure

♀ • Background Sensitivity: phenotype depends on degree of backcrossing to C57BL/6 and ranges from a small persistent anterior fontanelle to severe frontocranial dysplasia with obvious biomechanical instability