Phenotypes associated with this allele

• Allele Symbol: Cep290^tm1.1Jgg
• Allele Name: targeted mutation 1.1, Joseph Gleeson
• Allele ID: MGI:4835226
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cep290^tm1.1Jgg/Cep290^tm1.1Jgg	B6.129-Cep290^tm1.1Jgg	MGI:5295977
hm2	Cep290^tm1.1Jgg/Cep290^tm1.1Jgg	involves: 129	MGI:5007766

Genotype
MGI:5295977

hm1

• Allelic Composition: Cep290^tm1.1Jgg/Cep290^tm1.1Jgg
• Genetic Background: B6.129-Cep290^tm1.1Jgg

• ♀: 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

female infertility ( J:101977 )

♀

male infertility ( J:101977 )

♂

vision/eye

retina degeneration ( J:101977 )

Genotype
MGI:5007766

hm2

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

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