Phenotypes Associated with This Genotype

Genotype
MGI:3619999

hm3

• Allelic Composition: Scrib^Crc/Scrib^Crc
• Genetic Background: involves: BALB/c * C57BL/6 * NMRI

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

mortality/aging

perinatal lethality, complete penetrance ( J:62635 )

• homozygotes die at birth

nervous system

craniorachischisis ( J:62635 )

• by E9, neural tube fails to close along its rostrocaudal length from midbrain to tail

• skin excision bordering neural tube is prominent

abnormal forebrain development ( J:62635 )

• outpouching of forebrain tissue

• distortion of lateral ventricles and disappearance of third ventricle over time

• optic chiasm tends to form more caudal to anterior commissure

• glial palisade at chiasm is wider and thicker and is interrupted by an unidentified knot of tissue

abnormal lateral ventricle morphology ( J:62635 )

• distortion of lateral ventricles

absent third ventricle ( J:62635 )

• disappearance of third ventricle over time

abnormal optic nerve innervation ( J:62635 )

• retinal axon projections form an H shaped optic chiasm at E15

• retinal axons project correctly toward the dorsal thalamus, but fail to terminate

abnormal optic chiasm morphology ( J:62635 )

• optic chiasm tends to form more caudal to anterior commissure

encephalomeningocele ( J:62635 )

• prominent encephalocele

embryo

delayed embryo turning ( J:62635 )

• several day delay with a severe rightward kink of the body axis that lessens after turning

decreased embryo size ( J:62635 )

• smaller in size than normal littermates

decreased embryo weight ( J:62635 )

• lower in weight than normal littermates

craniorachischisis ( J:62635 )

• by E9, neural tube fails to close along its rostrocaudal length from midbrain to tail

• skin excision bordering neural tube is prominent

vision/eye

abnormal optic nerve innervation ( J:62635 )

• retinal axon projections form an H shaped optic chiasm at E15

• retinal axons project correctly toward the dorsal thalamus, but fail to terminate

abnormal optic chiasm morphology ( J:62635 )

• optic chiasm tends to form more caudal to anterior commissure

microphthalmia ( J:62635 )

• observed at E15

absent eyelids ( J:62635 )

• eyelids do not form

abnormal retina morphology ( J:62635 )

• shrunken vitreous region

abnormal retina ganglion layer morphology ( J:62635 )

• disorganized distribution of retinal ganglion cells

• ganglion cell nuclei are smaller than wild-type at E15

increased total retina thickness ( J:62635 )

• thickened neural retina

growth/size/body

decreased embryo size ( J:62635 )

• smaller in size than normal littermates

decreased embryo weight ( J:62635 )

• lower in weight than normal littermates

herniated abdominal wall ( J:62635 )

• gastroschisis or externalization of abdominal contents observed in all embryos with craniorachischisis