Phenotypes Associated with This Genotype

Genotype
MGI:5557989

• Allelic Composition: Cep290^rd16/Cep290^rd16
• Genetic Background: involves: BXD24/TyJ

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

cellular

abnormal cilium morphology ( J:204004 )

• primary dermal fibroblasts in culture are deficient in primary cilium formation, with about 50% fewer cells forming cilia than in wild-type cells

• cilia produced by dermal fibroblasts are more than 25% shorter than in wild-type cells

taste/olfaction

abnormal olfactory epithelium morphology ( J:125553 )

• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium

anosmia ( J:125553 )

• at all doses of odorant testing, mice show reduced electro-olfactogram responses at 1 month of age, indicating anosmia

craniofacial

abnormal olfactory epithelium morphology ( J:125553 )

• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium

respiratory system

abnormal olfactory epithelium morphology ( J:125553 )

• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium

growth/size/body

abnormal olfactory epithelium morphology ( J:125553 )

• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization

• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 10		DOID:0110291	OMIM:611755	J:125553