embryo
• dorsalized phenotype at the 10-13 somite stage that is partially recovered by the 45-47 somite stage
|
• P3 interneuron progenitors flanking the floor plate are reduced in number and located ectopically in the ventral midline
• the motor neuron progenitor domain expands ventrally across the midline at E11.5
|
• short, swollen morphology
|
• lack of midbrain furrow at E9.5 indicating a failure to specify the most ventral floor plate cells
|
craniofacial
cleft palate
(
J:243907
)
limbs/digits/tail
• mild
|
• achondroplasia of the radius and ulna
|
• achondroplasia of the radius and ulna
|
vision/eye
• reduced
|
cellular
• cilia on MEFs show a broader distribution of lengths
|
• short, swollen morphology
|
• expression analysis indicates a defect in intraflagellar transport in cilia on MEFs
|
nervous system
• P3 interneuron progenitors flanking the floor plate are reduced in number and located ectopically in the ventral midline
• the motor neuron progenitor domain expands ventrally across the midline at E11.5
|
• short, swollen morphology
|
• lack of midbrain furrow at E9.5 indicating a failure to specify the most ventral floor plate cells
|
exencephaly
(
J:243907
)
digestive/alimentary system
cleft palate
(
J:243907
)
growth/size/body
cleft palate
(
J:243907
)
skeleton
• achondroplasia of the radius and ulna
|
• achondroplasia of the radius and ulna
|
pigmentation
• reduced
|