Phenotypes Associated with This Genotype

Genotype
MGI:3579160

• Allelic Composition: Celsr3^tm1Agof/Celsr3^tm1Agof
• Genetic Background: either: CD-1.129P2-Celsr3^tm1Agof or (involves: 129P2/OlaHsd * C57BL/6 * CD-1)

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

mortality/aging

neonatal lethality, complete penetrance ( J:98367 )

• died a few hours after birth

nervous system

abnormal axon guidance ( J:98367 )

• abnormal development of the corticosubcortical, thalamocortical, corticospinal and spinocerebellar tracts and several longitudinal bundles in the hindbrain and spinal cord

• fiber bundles did not cross the striatum

• a large aberrant tract originated from the thalamus (the thalamic bundle), however instead of making a sharp turn toward the internal capsule, it descended laterally to the hypothalamic region and turned around the basal forebrain to cross the tissue and enter the cortical marginal zone

abnormal brain morphology ( J:98367 )

• absent medial lemniscus, and the globular striatum protruded excessively into a moderately enlarged ventricle

abnormal cortical marginal zone morphology ( J:98367 )

• observed swollen, moderately osmiophilic processes in the cortical marginal zone

absent brain internal capsule ( J:98367 )

abnormal globus pallidus morphology ( J:98367 )

• the pallidum had a rounded shape

abnormal cerebral cortex morphology ( J:98367 )

• abnormally thin cortical wall, mostly because of hypotrophy of the intermediate zone

• reduction of fibers in the cortical intermediate zone and abnormal small radial fascicles in the upper cortical tier

abnormal nervous system tract morphology ( J:98367 )

• the posterior spinocerebellar tract appeared dissociated and many longitudinal fiber bundles in the hindbrain tegmentum and dorsal spinal cord were reduced in size, poorly fasciculated or both

absent anterior commissure ( J:98367 )

decreased corticospinal tract size ( J:98367 )

• smaller corticospinal tract

respiratory system

abnormal pulmonary alveolus morphology ( J:98367 )

• reduced alveolar space, however all other components of lung tissue were normal

atelectasis ( J:98367 )

• poorly inflated lungs, although lobular pattern was normal

respiratory failure ( J:98367 )

• die of central ventilation failure

digestive/alimentary system

distended duodenum ( J:98367 )

• exhibited air dilation of the duodenum

meteorism ( J:98367 )

• exhibited air dilation of the stomach

homeostasis/metabolism

cyanosis ( J:98367 )

• newborns exhibited progressive cyanosis

behavior/neurological

impaired coordination ( J:98367 )

• newborns exhibited poorly coordinated movements

growth/size/body

meteorism ( J:98367 )

• exhibited air dilation of the stomach

cellular

abnormal axon guidance ( J:98367 )

• abnormal development of the corticosubcortical, thalamocortical, corticospinal and spinocerebellar tracts and several longitudinal bundles in the hindbrain and spinal cord

• fiber bundles did not cross the striatum

• a large aberrant tract originated from the thalamus (the thalamic bundle), however instead of making a sharp turn toward the internal capsule, it descended laterally to the hypothalamic region and turned around the basal forebrain to cross the tissue and enter the cortical marginal zone