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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Cep290tm1.1Jgg
targeted mutation 1.1, Joseph Gleeson
MGI:4835226
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Cep290tm1.1Jgg/Cep290tm1.1Jgg B6.129-Cep290tm1.1Jgg MGI:5295977
hm2
 		Cep290tm1.1Jgg/Cep290tm1.1Jgg involves: 129 MGI:5007766


Genotype
MGI:5295977
hm1
Allelic
Composition		 Cep290tm1.1Jgg/Cep290tm1.1Jgg
Genetic
Background		 B6.129-Cep290tm1.1Jgg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290tm1.1Jgg mutation (1 available); any Cep290 mutation (126 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body size ( J:101977 )
• neonates appear runted
slow postnatal weight gain ( J:101977 )
• normal body weight is not attained until 1 to 2 months after birth

reproductive system

vision/eye




Genotype
MGI:5007766
hm2
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 (126 available)
♀ 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




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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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory