Phenotypes Associated with This Genotype

Genotype
MGI:2176329

• Allelic Composition: Marcks^tm1Pjb/Marcks^tm1Pjb
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

Coronal sections of brains from Marcks^tm1Pjb/Marcks^tm1Pjb mice at E18.5

mortality/aging

perinatal lethality, incomplete penetrance ( J:22949 )

• most died on the day of birth

• none ever suckled

nervous system

open neural tube ( J:36065 )

• open neural tube seen in various areas of the forebrain, midbrain, and hindbrain at E9.5

• excessive blebbing at the boundary between the surface ectoderm and neuroepithelium

abnormal brain development ( J:22949 )

abnormal cortical marginal zone morphology ( J:22949 , J:40497 )

• boundry between the cortical plate and the marginal zone is irregular (J:22949)

• most prominent in the parietal cortex and hippocampus (J:22949)

• decreased thickness of the marginal zone at E16.5 (J:40497)

decreased brain size ( J:22949 )

dilated brain ventricle ( J:22949 )

• increased ventricular volume

abnormal brain commissure morphology ( J:36065 )

abnormal corpus callosum morphology ( J:22949 )

• disrupted

abnormal hippocampal commissure morphology ( J:22949 )

• disrupted ventral hippocampal commissure

abnormal anterior commissure morphology ( J:22949 )

• anterior commissure disrupted

abnormal cerebral cortex morphology ( J:22949 )

• abnormal separation of cerebral hemispheres

exencephaly ( J:22949 )

• seen in 25% of embryos from E12.5 onward

• percentage was higher in females than in males

ectopic neuron ( J:40497 )

• neuronal ectopia after E14.5

• some cases of neuroblasts growing through the basal lamina to the pial layer

• occasional neuronal growth into the subarachnoid space

craniofacial

acrania ( J:36065 )

• absence of scalp and skull in older fetuses with exencephaly

behavior/neurological

abnormal suckling behavior ( J:22949 )

• newborns never suckled

vision/eye

abnormal retina morphology ( J:22949 )

• transient fiber layer of Chievitz lost in retinas at E18.5

embryo

open neural tube ( J:36065 )

• open neural tube seen in various areas of the forebrain, midbrain, and hindbrain at E9.5

• excessive blebbing at the boundary between the surface ectoderm and neuroepithelium

growth/size/body

omphalocele ( J:22949 )

• large herniation at the umbilicus

• high frequency

microcephaly ( J:22949 )

• decreased head size

abnormal scalp morphology ( J:36065 )

• absence of scalp in older fetuses with exencephaly

decreased body size ( J:22949 )

• reduced crown to rump length in about 29% of mice

skeleton

acrania ( J:36065 )

• absence of scalp and skull in older fetuses with exencephaly