Phenotypes Associated with This Genotype

Genotype
MGI:5007766

• Allelic Composition: Cep290^tm1.1Jgg/Cep290^tm1.1Jgg
• Genetic Background: involves: 129

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

growth/size/body

decreased body size ( J:172420 )

• some runting in otherwise healthy mice

nervous system

abnormal cerebellum morphology ( J:172420 )

• midline fusion defects at E16.5

reduced cerebellar foliation ( J:172420 )

• mild foliation defects

abnormal cerebellum vermis morphology ( J:172420 )

• vermis is smaller but statistically normal in size

vision/eye

retina degeneration ( J:172420 )

• 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