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Phenotypes Associated with This Genotype
Genotype
MGI:5007766
Allelic
Composition
Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290tm1.1Jgg mutation (1 available); any Cep290 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• some runting in otherwise healthy mice

nervous system
• midline fusion defects at E16.5
• mild foliation defects
• vermis is smaller but statistically normal in size

vision/eye
• a retinal degeneration defect is observed

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Joubert syndrome 5 DOID:0111000 OMIM:610188
J:172420


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
02/23/2021
MGI 6.16
The Jackson Laboratory