Phenotypes Associated with This Genotype

Genotype
MGI:5526862

• Allelic Composition: Crx^Rip/Crx⁺
• Genetic Background: C57BL/6J-Crx^Rip

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

Crx^Rip/Crx⁺ retinal photoreceptors lack outer segments and possess very short inner segments

vision/eye

vision/eye phenotype ( J:203337 )

N • retinal outer nuclear layer thickness is preserved up to 18 months

abnormal retina blood vessel morphology ( J:203337 )

• small with poor blood flow

abnormal retina photoreceptor morphology ( J:203337 )

• long term preservation of immature cone-like photoreceptors

• however, rod phenotype is partially rescued by transgenic expression of Nrl under the control of the Crx promoter

short photoreceptor inner segment ( J:203337 )

• very short

• however, ciliary microtubules are detected

absent photoreceptor outer segment ( J:203337 )

• however, ciliary microtubules are detected

retina spots ( J:203337 )

• white spots

abnormal cone electrophysiology ( J:203337 )

• complete absence of cone visual response at 1 month

abnormal rod electrophysiology ( J:203337 )

• complete absence of rod visual response at 1 month

• however, rod phenotype is partially rescued by transgenic expression of Nrl under the control of the Crx promoter

blindness ( J:203337 )

cardiovascular system

abnormal retina blood vessel morphology ( J:203337 )

• small with poor blood flow

abnormal blood circulation ( J:203337 )

• poor blood flow in retinal blood vessels

nervous system

abnormal retina photoreceptor morphology ( J:203337 )

• long term preservation of immature cone-like photoreceptors

• however, rod phenotype is partially rescued by transgenic expression of Nrl under the control of the Crx promoter

short photoreceptor inner segment ( J:203337 )

• very short

• however, ciliary microtubules are detected

absent photoreceptor outer segment ( J:203337 )

• however, ciliary microtubules are detected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 7		DOID:0110333	OMIM:613829	J:203337