Phenotypes Associated with This Genotype

Genotype
MGI:5883451

• Allelic Composition: Katnip^{Gt(RRG309)Byg}/Katnip^{Gt(RRG309)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

nervous system

nervous system phenotype ( J:239987 )

N • despite hydrocephalus, mice exhibit normal ependymal cilia beat frequency and cerebral spinal fluid flow velocity relative to heterozygous controls

N • no differences are noted in the distribution, number or structure of primary cilia in sections of the hippocampus CA1 region and dentate gyrus

hydrocephaly ( J:239987 )

• mice frequently exhibit a hydrocephalus phenotype ranging from mild ventricular distension to severe skull malformation

obstructive hydrocephaly ( J:239987 )

• injection of Evans blue dye into the lateral ventricle fails to stain the cerebral aqueduct and fourth ventricle, indicating a form of non-communicating (obstructive) hydrocephalus due to blockage of the cerebral aqueduct

cerebral aqueductal stenosis ( J:239987 )

• blockage of the cerebral aqueduct, as revealed by a lack of Evans blue dye

enlarged lateral ventricles ( J:239987 )

• enlargement of the lateral ventricles

abnormal hippocampus morphology ( J:239987 )

• deformation (compression) of the hippocampus

abnormal cerebrospinal fluid flow ( J:239987 )

• blockage of cerebrospinal fluid flow in the cerebral aqueduct

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Joubert syndrome 26		DOID:0110995	OMIM:616784	J:239987