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Phenotypes Associated with This Genotype
Genotype
MGI:5883451
Allelic
Composition
KatnipGt(RRG309)Byg/KatnipGt(RRG309)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
KatnipGt(RRG309)Byg mutation (0 available); any Katnip mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• despite hydrocephalus, mice exhibit normal ependymal cilia beat frequency and cerebral spinal fluid flow velocity relative to heterozygous controls
• no differences are noted in the distribution, number or structure of primary cilia in sections of the hippocampus CA1 region and dentate gyrus
• mice frequently exhibit a hydrocephalus phenotype ranging from mild ventricular distension to severe skull malformation
• 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
• blockage of the cerebral aqueduct, as revealed by a lack of Evans blue dye
• enlargement of the lateral ventricles
• deformation (compression) of the hippocampus
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory