Phenotypes Associated with This Genotype

Genotype
MGI:7277808

• Allelic Composition: Tlcd3b^em1(IMPC)Bay/Tlcd3b^em1(IMPC)Bay
• Genetic Background: C57BL/6NJ-Tlcd3b^em1(IMPC)Bay/Mmnc

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

vision/eye

decreased retina cone cell number ( J:307901 )

• number of cones is reduced in the inner and outer segment, with 30% loss of cones in the retina, and significant loss in the dorsotemporal, ventronasal, and ventrotemporal areas

• however, no changes are seen in cell number or morphology of rod-bipolar cells

thin retina outer nuclear layer ( J:307901 )

• 20% reduction in the outer nuclear layer (ONL) thickness and number of nuclei at 7 months of age

• however, thinning of the inner nuclear layer is insignificant

decreased b-wave amplitude ( J:307901 )

• ERG shows reduced scotopic and photopic b-wave amplitude in 7-month-old mice

• 25% reduction in scotopic b-wave amplitude at maximum stimulus intensity

• 40% reduction in photopic b-wave amplitude at maximum stimulus, indicating dysfunctional cones

• however, scotopic a-wave ERGs show a normal response of rod photoreceptors, indicating largely normal rod photoreceptor activity

abnormal cone electrophysiology ( J:307901 )

• 40% reduction in photopic b-wave amplitude at maximum stimulus, indicating dysfunctional cones

nervous system

decreased retina cone cell number ( J:307901 )

• number of cones is reduced in the inner and outer segment, with 30% loss of cones in the retina, and significant loss in the dorsotemporal, ventronasal, and ventrotemporal areas

• however, no changes are seen in cell number or morphology of rod-bipolar cells

reproductive system

reproductive system phenotype ( J:307901 )

♂N • males are fertile

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy		DOID:0050572		J:307901