Phenotypes Associated with This Genotype

Genotype
MGI:3510639

• Allelic Composition: Ccdc85c^hhy/Ccdc85c^hhy
• Genetic Background: involves: BALB/cHeA * STS/A

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

mortality/aging

premature death ( J:93608 )

• mutants died within several days after notice of hydroencephaly, usually within 15 weeks of age

cardiovascular system

intracranial hemorrhage ( J:93608 )

• heads were bluish-black, detected in 87% of hydrocephalic mice

nervous system

abnormal nervous system morphology ( J:93608 )

hydrocephaly ( J:93608 )

• detected at 3.5-19 weeks of age and affected mice died within several days after notice

cerebral aqueductal stenosis ( J:93608 )

• secondary lesions detected in severe cases resulting from ventricular dilation

dilated lateral ventricle ( J:93608 )

• detected in some clinically normal mice at 9-19 weeks of age with variability

abnormal midbrain morphology ( J:93608 )

• flattened due to dilation of ventricles

abnormal cerebral cortex morphology ( J:93608 )

• in severe cases exhibited attenuated cerebral cortices

• cortical heterotopia in the subcortical regions of 15-week old mutant brains

abnormal occipital lobe morphology ( J:93608 )

• dislocated caudally

abnormal cerebellum morphology ( J:93608 )

• compressed due to the dislocation of occipital lobes

gliosis ( J:93608 )

• proliferated and hypertrophic astrocytes in the compressed parenchyma around the ventricles

abnormal nervous system physiology ( J:93608 )

intracranial hemorrhage ( J:93608 )

• heads were bluish-black, detected in 87% of hydrocephalic mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hydrocephalus		DOID:10908	OMIM:123155 OMIM:236600 OMIM:236635 OMIM:307000 OMIM:615219	J:93608