Phenotypes Associated with This Genotype

Genotype
MGI:4430105

• Allelic Composition: Tg(Rho-GUCA1A*Y99C)L53Amd/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

vision/eye

absent photoreceptor outer segment ( J:157063 , J:180234 )

• by 6 months of age, both rods and cones are absent (J:157063)

• by P17, photoreceptor outer segments are absent (J:180234)

short photoreceptor outer segment ( J:157063 )

• as early as 3 weeks of age

retina photoreceptor degeneration ( J:157063 , J:180234 )

• by 6 months of age only a few photoreceptor nuclei remaining (J:157063)

• severe photoreceptor degeneration (J:180234)

• RNA interference-based gene-therapy with a bovine GUCA1A shRNA improves retinal morphology and promotes survival of photoreceptors (J:180234)

abnormal retina outer nuclear layer morphology ( J:180234 )

• by P17, the outer nuclear layer appears in disarray

retina degeneration ( J:157063 )

abnormal eye physiology ( J:157063 )

• calcium sensitivity of guanylyl cyclase in photoreceptors is shifted compared to in wild-type photoreceptors

• in darkness, rod outer segment calcium levels are higher than in wild-type cells

abnormal cone electrophysiology ( J:157063 )

• at 6 months, cone-driven b-wave is suppressed compared to in wild-type mice

abnormal rod electrophysiology ( J:157063 )

• at 5 to 7 months, the dark-adapted corneal negative a-wave is absent unlike in wild-type mice

• the average singe photon response is 1.8-fold larger and peaks later than in similarly treated wild-type rods

nervous system

absent photoreceptor outer segment ( J:157063 , J:180234 )

• by 6 months of age, both rods and cones are absent (J:157063)

• by P17, photoreceptor outer segments are absent (J:180234)

short photoreceptor outer segment ( J:157063 )

• as early as 3 weeks of age

retina photoreceptor degeneration ( J:157063 , J:180234 )

• by 6 months of age only a few photoreceptor nuclei remaining (J:157063)

• severe photoreceptor degeneration (J:180234)

• RNA interference-based gene-therapy with a bovine GUCA1A shRNA improves retinal morphology and promotes survival of photoreceptors (J:180234)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy 14		DOID:0080314	OMIM:602093	J:180234