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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 (71 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• neonates appear runted
• 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 (71 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





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last database update
09/11/2018
MGI 6.12
The Jackson Laboratory