Phenotypes Associated with This Genotype

Genotype
MGI:7782503

• Allelic Composition: Cct2^em1Itwa/Cct2^em2Itwa
• Genetic Background: involves: C57BL/6J

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

vision/eye

abnormal retina cone cell morphology ( J:358007 )

• aberrant cone cell localization in the retina indicating aberrant cone cell lamination

abnormal retina outer nuclear layer morphology ( J:358007 )

• some cone cell bodies are located in the middle of the outer nuclear layer (ONL) and the mean relative cone cell position is slightly, but significantly shorter, suggesting that cone cell migration is affected

• however, outer nuclear layer thickness is normal at P14, counts of cone photoreceptor cell bodies, bipolar cells, amacrine cells, and retinal ganglion cells are normal, and cone pedicle sizes are not different

nervous system

abnormal retina cone cell morphology ( J:358007 )

• aberrant cone cell localization in the retina indicating aberrant cone cell lamination

mortality/aging

postnatal lethality, complete penetrance ( J:358007 )

• mice do not survive longer than P14

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis		DOID:14791	OMIM:PS204000	J:358007